A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585001



Internal ID6972526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1502788..1514123hg38UCSC Ensembl
Innerchr1:1502788..1514123hg38UCSC Ensembl
Outerchr1:1502288..1514623hg38UCSC Ensembl
chr1:1438168..1449503hg19UCSC Ensembl
Innerchr1:1438168..1449503hg19UCSC Ensembl
Outerchr1:1437668..1450003hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3811336
hg1911336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840828, essv9840822, essv9840826, essv9840827, essv9840825, essv9840823, essv9840824
SamplesHG02648, HG03460, HG03697, HG01390, HG00146, HG03117, HG00125
Known GenesATAD3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585001
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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