A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10442359



Internal ID5415763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30875586..30878947hg38UCSC Ensembl
Innerchr2:30875636..30878897hg38UCSC Ensembl
Outerchr2:30875534..30878999hg38UCSC Ensembl
chr2:31098452..31101813hg19UCSC Ensembl
Innerchr2:31098502..31101763hg19UCSC Ensembl
Outerchr2:31098400..31101865hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383362
hg193362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590209
Supporting Variants
SamplesNA18949
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10442359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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