A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612220



Internal ID6999121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:11667587..11683089hg38UCSC Ensembl
Innerchr7:11667587..11683089hg38UCSC Ensembl
Outerchr7:11667087..11683589hg38UCSC Ensembl
chr7:11707214..11722716hg19UCSC Ensembl
Innerchr7:11707214..11722716hg19UCSC Ensembl
Outerchr7:11706714..11723216hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3815503
hg1915503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683038
SamplesNA19197
Known GenesTHSD7A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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