A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10720124



Internal ID3775932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:155328450..155348134hg38UCSC Ensembl
Innerchr2:155328481..155348104hg38UCSC Ensembl
Outerchr2:155328420..155348165hg38UCSC Ensembl
chr2:156184962..156204646hg19UCSC Ensembl
Innerchr2:156184993..156204616hg19UCSC Ensembl
Outerchr2:156184932..156204677hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3819685
hg1919685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593023
Supporting Variants
SamplesHG03419
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10720124
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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