A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522170



Internal ID2476257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62847690..62848761hg38UCSC Ensembl
Innerchr2:62847738..62848714hg38UCSC Ensembl
Outerchr2:62847643..62848809hg38UCSC Ensembl
chr2:63074825..63075896hg19UCSC Ensembl
Innerchr2:63074873..63075849hg19UCSC Ensembl
Outerchr2:63074778..63075944hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg381072
hg191072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591048
Supporting Variants
SamplesHG02182
Known GenesEHBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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