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esv4011098

  • Study:estd236 (Kurtas et al. 2018)
  • Variant Type:complex chromosomal rearrangement
  • Method Type:Oligo aCGH, PCR, Sequencing
  • Submitted on:GRCh37 (hg19)
  • Variant Calls:4
  • Validation:Not tested
  • Clinical Assertions: No
  • Region Size:105,695,757

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 252877 SVs from 149 studies. See in: genome view    
Remapped(Score: Good):48,417,513-154,113,269Question Mark
Overlapping variant regions from other studies: 251998 SVs from 149 studies. See in: genome view    
Submitted genomic48,385,249-154,434,404Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
esv4011098RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr648,417,513154,113,269-
esv4011098Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr648,385,249154,434,404-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisCopy numberZygosityOther Calls in this Sample and Study
essv26067119intrachromosomal translocation286Oligo aCGH, PCR, SequencingManual observation, Merging, Read depth and paired-end mapping2Heterozygous5
essv26067127intrachromosomal translocation286Oligo aCGH, PCR, SequencingManual observation, Merging, Read depth and paired-end mapping2Heterozygous5
essv26067105interchromosomal translocation286Oligo aCGH, PCR, SequencingManual observation, Merging, Read depth and paired-end mapping2Heterozygous5
essv26067130interchromosomal translocation286Oligo aCGH, PCR, SequencingManual observation, Merging, Read depth and paired-end mapping2Heterozygous5

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
essv26067119RemappedPerfectGRCh38.p12First PassNC_000006.12Chr648,417,51348,417,513-
essv26067127RemappedPerfectGRCh38.p12First PassNC_000006.12Chr648,426,96248,426,962+
essv26067105RemappedPerfectGRCh38.p12First PassNC_000006.12Chr691,052,82191,052,821+
essv26067130RemappedPerfectGRCh38.p12First PassNC_000006.12Chr691,052,83591,052,835+
essv26067119RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6154,113,248154,113,248+
essv26067127RemappedPerfectGRCh38.p12First PassNC_000006.12Chr6154,113,269154,113,269-
essv26067130RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1484,961,31284,961,312-
essv26067105RemappedPerfectGRCh38.p12First PassNC_000014.9Chr1486,531,64286,531,642+
essv26067119Submitted genomicGRCh37 (hg19)NC_000006.11Chr648,385,24948,385,249-
essv26067127Submitted genomicGRCh37 (hg19)NC_000006.11Chr648,394,69848,394,698+
essv26067105Submitted genomicGRCh37 (hg19)NC_000006.11Chr691,762,53991,762,539+
essv26067130Submitted genomicGRCh37 (hg19)NC_000006.11Chr691,762,55391,762,553+
essv26067119Submitted genomicGRCh37 (hg19)NC_000006.11Chr6154,434,383154,434,383+
essv26067127Submitted genomicGRCh37 (hg19)NC_000006.11Chr6154,434,404154,434,404-
essv26067130Submitted genomicGRCh37 (hg19)NC_000014.8Chr1485,427,65685,427,656-
essv26067105Submitted genomicGRCh37 (hg19)NC_000014.8Chr1486,997,98686,997,986+

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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