A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10733119



Internal ID734935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160134781..160152812hg38UCSC Ensembl
Innerchr2:160135281..160152312hg38UCSC Ensembl
Outerchr2:160133781..160153812hg38UCSC Ensembl
chr2:160991292..161009323hg19UCSC Ensembl
Innerchr2:160991792..161008823hg19UCSC Ensembl
Outerchr2:160990292..161010323hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3818032
hg1918032
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593128
Supporting Variants
SamplesNA18614
Known GenesITGB6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10733119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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