A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617304



Internal ID7004190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56682483..56683369hg38UCSC Ensembl
Innerchr8:56682533..56683065hg38UCSC Ensembl
Outerchr8:56682326..56683526hg38UCSC Ensembl
chr8:57595042..57595928hg19UCSC Ensembl
Innerchr8:57595092..57595624hg19UCSC Ensembl
Outerchr8:57594885..57596085hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204569, essv13204557, essv13204570, essv13204567, essv13204561, essv13204558, essv13204562, essv13204563, essv13204566, essv13204564, essv13204568, essv13204560, essv13204559, essv13204571, essv13204565
SamplesHG02973, HG03297, HG03199, HG03385, NA19917, NA20340, NA18934, HG02449, HG02108, HG02976, HG03078, HG03557, HG03084, NA18501, NA19116
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617304
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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