A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616103



Internal ID6656300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6933457..6940632hg38UCSC Ensembl
Innerchr8:6933511..6940579hg38UCSC Ensembl
Outerchr8:6933404..6940686hg38UCSC Ensembl
chr8:6790979..6798154hg19UCSC Ensembl
Innerchr8:6791033..6798101hg19UCSC Ensembl
Outerchr8:6790926..6798208hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387176
hg197176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13080442, essv13080444, essv13080436, essv13080435, essv13080445, essv13080439, essv13080437, essv13080434, essv13080447, essv13080443, essv13080446, essv13080438, essv13080432, essv13080433, essv13080448, essv13080440, essv13080431, essv13080441
SamplesNA20874, HG03228, NA12045, HG02792, NA19678, HG03937, HG03619, NA20845, HG00323, HG03697, HG03785, HG03636, HG03823, NA20828, HG01685, HG02651, NA20544, HG02694
Known GenesDEFA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616103
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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