A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10628721



Internal ID5751508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112287729..112289455hg38UCSC Ensembl
Innerchr2:112287768..112289417hg38UCSC Ensembl
Outerchr2:112287691..112289494hg38UCSC Ensembl
chr2:113045306..113047032hg19UCSC Ensembl
Innerchr2:113045345..113046994hg19UCSC Ensembl
Outerchr2:113045268..113047071hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381727
hg191727
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592004
Supporting Variants
SamplesNA19121
Known GenesZC3H6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10628721
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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