A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10536663



Internal ID538479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70043242..70044651hg38UCSC Ensembl
Innerchr2:70043242..70044651hg38UCSC Ensembl
Outerchr2:70043030..70044869hg38UCSC Ensembl
chr2:70270374..70271783hg19UCSC Ensembl
Innerchr2:70270374..70271783hg19UCSC Ensembl
Outerchr2:70270162..70272001hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381410
hg191410
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591197
Supporting Variants
SamplesNA18595
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10536663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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