A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10742703



Internal ID744519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162321856..162323911hg38UCSC Ensembl
Innerchr2:162321907..162323861hg38UCSC Ensembl
Outerchr2:162321708..162324059hg38UCSC Ensembl
chr2:163178366..163180421hg19UCSC Ensembl
Innerchr2:163178417..163180371hg19UCSC Ensembl
Outerchr2:163178218..163180569hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg382056
hg192056
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593180
Supporting Variants
SamplesHG01077
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10742703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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