A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617462



Internal ID7004347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65432560..65439784hg38UCSC Ensembl
Innerchr8:65433060..65439284hg38UCSC Ensembl
Outerchr8:65431560..65440784hg38UCSC Ensembl
chr8:66344795..66352019hg19UCSC Ensembl
Innerchr8:66345295..66351519hg19UCSC Ensembl
Outerchr8:66343795..66353019hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg387225
hg197225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13214107, essv13214108, essv13214121, essv13214106, essv13214120, essv13214124, essv13214105, essv13214113, essv13214110, essv13214104, essv13214115, essv13214116, essv13214109, essv13214103, essv13214119, essv13214112, essv13214114, essv13214123, essv13214117, essv13214111, essv13214122, essv13214118
SamplesHG00650, HG00361, HG00187, HG00177, HG00271, HG00641, HG03603, NA19651, NA19056, HG01122, HG00557, HG00328, HG00275, HG01948, HG01921, NA18541, HG01992, HG00288, NA18968, HG00345, NA19065, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617462
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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