A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616985



Internal ID7003871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41088856..41089317hg38UCSC Ensembl
Innerchr8:41088856..41089317hg38UCSC Ensembl
Outerchr8:41088595..41089592hg38UCSC Ensembl
chr8:40946375..40946836hg19UCSC Ensembl
Innerchr8:40946375..40946836hg19UCSC Ensembl
Outerchr8:40946114..40947111hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13180279, essv13180288, essv13180275, essv13180289, essv13180283, essv13180274, essv13180270, essv13180284, essv13180271, essv13180267, essv13180291, essv13180290, essv13180280, essv13180287, essv13180286, essv13180278, essv13180272, essv13180277, essv13180273, essv13180269, essv13180282, essv13180276, essv13180285, essv13180281, essv13180268
SamplesNA18502, NA19397, HG02337, HG03300, HG03115, NA19377, HG03172, NA19138, HG02981, HG02946, NA19707, HG03291, HG02322, NA18915, HG01880, HG02497, HG02557, NA18517, NA18865, NA19248, NA19438, NA19713, NA19093, NA19661, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616985
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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