A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12980168



Internal ID2981984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138102767..138105185hg38UCSC Ensembl
Innerchr7:138102767..138105185hg38UCSC Ensembl
Outerchr7:138102617..138105382hg38UCSC Ensembl
chr7:137787513..137789931hg19UCSC Ensembl
Innerchr7:137787513..137789931hg19UCSC Ensembl
Outerchr7:137787363..137790128hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382419
hg192419
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615181
Supporting Variants
SamplesNA19921
Known GenesAKR1D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12980168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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