A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601173



Internal ID6988212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82395258..82396568hg38UCSC Ensembl
Innerchr4:82395308..82396518hg38UCSC Ensembl
Outerchr4:82395110..82396716hg38UCSC Ensembl
chr4:83316411..83317721hg19UCSC Ensembl
Innerchr4:83316461..83317671hg19UCSC Ensembl
Outerchr4:83316263..83317869hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11519649, essv11519648, essv11519650, essv11519651, essv11519659, essv11519658, essv11519655, essv11519643, essv11519657, essv11519646, essv11519642, essv11519645, essv11519656, essv11519654, essv11519647, essv11519660, essv11519653, essv11519644, essv11519652
SamplesNA18924, NA18504, NA19171, HG03342, HG03040, NA19904, HG03352, NA20412, HG03343, HG03363, NA18934, HG03291, HG02497, NA19334, NA20281, HG03279, NA19102, HG03401, HG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601173
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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