A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10513392



Internal ID989125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56234378..56237119hg38UCSC Ensembl
Innerchr2:56234427..56237070hg38UCSC Ensembl
Outerchr2:56234329..56237168hg38UCSC Ensembl
chr2:56461513..56464254hg19UCSC Ensembl
Innerchr2:56461562..56464205hg19UCSC Ensembl
Outerchr2:56461464..56464303hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590879
Supporting Variants
SamplesHG00614
Known GenesCCDC85A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10513392
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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