A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10747302



Internal ID1599105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165780562..165783317hg38UCSC Ensembl
Innerchr2:165780595..165783285hg38UCSC Ensembl
Outerchr2:165780530..165783350hg38UCSC Ensembl
chr2:166637072..166639827hg19UCSC Ensembl
Innerchr2:166637105..166639795hg19UCSC Ensembl
Outerchr2:166637040..166639860hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382756
hg192756
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593241
Supporting Variants
SamplesHG01488
Known GenesGALNT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10747302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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