A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693654



Internal ID5295981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20988181..20991799hg38UCSC Ensembl
Innerchr7:20988206..20991775hg38UCSC Ensembl
Outerchr7:20988157..20991824hg38UCSC Ensembl
chr7:21027800..21031418hg19UCSC Ensembl
Innerchr7:21027825..21031394hg19UCSC Ensembl
Outerchr7:21027776..21031443hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg383619
hg193619
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612499
Supporting Variants
SamplesNA18748
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693654
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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