A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693223



Internal ID2711682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20437934..20499441hg38UCSC Ensembl
Innerchr7:20437961..20499415hg38UCSC Ensembl
Outerchr7:20437908..20499468hg38UCSC Ensembl
chr7:20477557..20539064hg19UCSC Ensembl
Innerchr7:20477584..20539038hg19UCSC Ensembl
Outerchr7:20477531..20539091hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3861508
hg1961508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612489
Supporting Variants
SamplesHG02392
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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