esv2534395
- Organism: Homo sapiens
- Study:estd197 (McKernan et al. 2009)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,211
- Description:originalFile=Yoruban_large_indels_8.4x.gff
- Publication(s):McKernan et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 136 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv2534395 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000019.10 | Chr19 | 54,413,248 | 54,414,458 |
esv2534395 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_9 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 396,022 | 396,746 |
esv2534395 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 318,454 | 319,152 |
esv2534395 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 320,393 | 320,976 |
esv2534395 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 54,924,908 | 54,925,632 |
esv2534395 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 59,616,720 | 59,617,444 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv5189541 | Remapped | Perfect | NT_187693.1:g.(396 022_?)_(?_396746)i ns? | GRCh38.p12 | First Pass | NT_187693.1 | Chr19|NT_1 87693.1 | 396,022 | 396,746 |
essv5189541 | Remapped | Good | NW_003571060.1:g.( 318454_?)_(?_31915 2)ins? | GRCh38.p12 | Second Pass | NW_003571060.1 | Chr19|NW_0 03571060.1 | 318,454 | 319,152 |
essv5189541 | Remapped | Pass | NW_003571054.1:g.( 320393_?)_(?_32097 6)ins? | GRCh38.p12 | Second Pass | NW_003571054.1 | Chr19|NW_0 03571054.1 | 320,393 | 320,976 |
essv5189541 | Remapped | Pass | NC_000019.10:g.(54 413248_?)_(?_54414 458)ins? | GRCh38.p12 | Second Pass | NC_000019.10 | Chr19 | 54,413,248 | 54,414,458 |
essv5189541 | Remapped | Perfect | NC_000019.9:g.(549 24908_?)_(?_549256 32)ins? | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 54,924,908 | 54,925,632 |
essv5189541 | Submitted genomic | NC_000019.8:g.(596 16720_?)_(?_596174 44)ins? | NCBI36 (hg18) | NC_000019.8 | Chr19 | 59,616,720 | 59,617,444 |