A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10845291



Internal ID6478408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215606066..215671885hg38UCSC Ensembl
Innerchr2:215606066..215671885hg38UCSC Ensembl
Outerchr2:215605566..215672385hg38UCSC Ensembl
chr2:216470789..216536608hg19UCSC Ensembl
Innerchr2:216470789..216536608hg19UCSC Ensembl
Outerchr2:216470289..216537108hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3865820
hg1965820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594276
Supporting Variants
SamplesNA20524
Known GenesLINC00607
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10845291
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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