A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613766



Internal ID6653974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76502213..77002274hg38UCSC Ensembl
Innerchr7:76502713..77001774hg38UCSC Ensembl
Outerchr7:76501213..77003274hg38UCSC Ensembl
chr7:76131530..76631591hg19UCSC Ensembl
Innerchr7:76132030..76631091hg19UCSC Ensembl
Outerchr7:76130530..76632591hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38500062
hg19500062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848924, essv12848923, essv12848927, essv12848926, essv12848929, essv12848925, essv12848928
SamplesHG01325, NA19701, NA19681, NA20753, NA11992, HG03830, HG02860
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613766
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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