A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10420117



Internal ID4550366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17338162..17350255hg38UCSC Ensembl
Innerchr2:17338162..17350255hg38UCSC Ensembl
Outerchr2:17337662..17350755hg38UCSC Ensembl
chr2:17519429..17531522hg19UCSC Ensembl
Innerchr2:17519429..17531522hg19UCSC Ensembl
Outerchr2:17518929..17532022hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3812094
hg1912094
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589943
Supporting Variants
SamplesHG04054
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10420117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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