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dbVar

Database of genomic structural variation

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Supporting Variant Placements for estd186
Study ID	Variant ID	Variant Region type	Variant Call type	Sampleset ID	Method	Analysis ID	Validation	Variant samples	Subject phenotype	Clinical Interpretation	Assembly	Accession	Chr	Outer-Start	Start	Inner-Start	Inner-End	End	Outer-End	Placement Type	Remap Score
estd186	essv4367667		copy number loss		SNP array	SNP genotyping analysis	Yes	3-1	Cerebellar Ataxia	Likely pathogenic	GRCh37.p13	NC_000001.10	1	6848878		6854451	6903599		6912597	Remapped	1
estd186	essv4367667		copy number loss		SNP array	SNP genotyping analysis	Yes	3-1	Cerebellar Ataxia	Likely pathogenic	GRCh37.p13	NC_000001.10	1	6848878		6854451	6903599		6912597	Remapped	1
estd186	essv4367667		copy number loss		SNP array	SNP genotyping analysis	Yes	3-1	Cerebellar Ataxia	Likely pathogenic	GRCh38.p12	NC_000001.11	1	6788818		6794391	6843539		6852537	Remapped	1
estd186	essv4367667		copy number loss		SNP array	SNP genotyping analysis	Yes	3-1	Cerebellar Ataxia	Likely pathogenic	NCBI36 (hg18)	NC_000001.9	1	6771465		6777038	6826186		6835184	Submitted genomic
estd186	essv4367668		copy number loss		Oligo aCGH	Probe signal intensity	Yes	1-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh37.p13	NC_000001.10	1	7101726		7119268	7211189		7256822	Remapped	1
estd186	essv4367668		copy number loss		Oligo aCGH	Probe signal intensity	Yes	1-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh37.p13	NC_000001.10	1	7101726		7119268	7211189		7256822	Remapped	1
estd186	essv4367668		copy number loss		Oligo aCGH	Probe signal intensity	Yes	1-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh38.p12	NC_000001.11	1	7041666		7059208	7151129		7196762	Remapped	1
estd186	essv4367668		copy number loss		Oligo aCGH	Probe signal intensity	Yes	1-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	NCBI36 (hg18)	NC_000001.9	1	7024313		7041855	7133776		7179409	Submitted genomic
estd186	essv4367669		copy number gain		Oligo aCGH	Probe signal intensity	Yes	2-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh37.p13	NC_000001.10	1	6941117		6959785	7499528		7525200	Remapped	1
estd186	essv4367669		copy number gain		Oligo aCGH	Probe signal intensity	Yes	2-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh37.p13	NC_000001.10	1	6941117		6959785	7499528		7525200	Remapped	1
estd186	essv4367669		copy number gain		Oligo aCGH	Probe signal intensity	Yes	2-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	GRCh38.p12	NC_000001.11	1	6881057		6881057	7465140		7465140	Remapped	1
estd186	essv4367669		copy number gain		Oligo aCGH	Probe signal intensity	Yes	2-1	Cerebellar Ataxia;Intellectual Disability	Likely pathogenic	NCBI36 (hg18)	NC_000001.9	1	6863704		6882372	7422115		7447787	Submitted genomic

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