A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522164



Internal ID2522714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62543699..62554951hg38UCSC Ensembl
Innerchr2:62543739..62554912hg38UCSC Ensembl
Outerchr2:62543660..62554991hg38UCSC Ensembl
chr2:62770834..62782086hg19UCSC Ensembl
Innerchr2:62770874..62782047hg19UCSC Ensembl
Outerchr2:62770795..62782126hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3811253
hg1911253
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591043
Supporting Variants
SamplesHG02236
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522164
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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