A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12848923



Internal ID2850739
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613766
Supporting Variants
SamplesHG01325
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12848923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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