A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12684552



Internal ID2704945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:13232392..13273431hg38UCSC Ensembl
Innerchr7:13232413..13273410hg38UCSC Ensembl
Outerchr7:13232371..13273452hg38UCSC Ensembl
chr7:13272017..13313056hg19UCSC Ensembl
Innerchr7:13272038..13313035hg19UCSC Ensembl
Outerchr7:13271996..13313077hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3841040
hg1941040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612288
Supporting Variants
SamplesHG02389
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12684552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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