A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617274



Internal ID7004160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55148221..55153959hg38UCSC Ensembl
Innerchr8:55148238..55153943hg38UCSC Ensembl
Outerchr8:55148205..55153976hg38UCSC Ensembl
chr8:56060781..56066519hg19UCSC Ensembl
Innerchr8:56060798..56066503hg19UCSC Ensembl
Outerchr8:56060765..56066536hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385739
hg195739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13204256
SamplesNA21126
Known GenesXKR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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