A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612462



Internal ID6652676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19111202..19116559hg38UCSC Ensembl
Innerchr7:19111202..19116559hg38UCSC Ensembl
Outerchr7:19110702..19117059hg38UCSC Ensembl
chr7:19150825..19156182hg19UCSC Ensembl
Innerchr7:19150825..19156182hg19UCSC Ensembl
Outerchr7:19150325..19156682hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg385358
hg195358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12692786, essv12692787, essv12692785
SamplesHG00235, NA19923, HG01275
Known GenesTWIST1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612462
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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