A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586198



Internal ID6973718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60022240..60022840hg38UCSC Ensembl
Innerchr1:60022240..60022840hg38UCSC Ensembl
Outerchr1:60022007..60023064hg38UCSC Ensembl
chr1:60487912..60488512hg19UCSC Ensembl
Innerchr1:60487912..60488512hg19UCSC Ensembl
Outerchr1:60487679..60488736hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9945772, essv9945777, essv9945775, essv9945779, essv9945778, essv9945773, essv9945774, essv9945768, essv9945770, essv9945769, essv9945776, essv9945771, essv9945780
SamplesNA18625, NA18993, NA19079, HG00629, HG00556, NA18981, HG00525, NA19059, HG01596, NA18950, NA18615, HG00513, NA18984
Known GenesC1orf87
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586198
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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