A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617276



Internal ID7004162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55203366..55210280hg38UCSC Ensembl
Innerchr8:55203366..55210280hg38UCSC Ensembl
Outerchr8:55203282..55210379hg38UCSC Ensembl
chr8:56115926..56122840hg19UCSC Ensembl
Innerchr8:56115926..56122840hg19UCSC Ensembl
Outerchr8:56115842..56122939hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg386915
hg196915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204258, essv13204259
SamplesHG01812, NA18952
Known GenesXKR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617276
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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