A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930776



Internal ID9691537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76502317..77002272hg38UCSC Ensembl
Outerchr7:76131634..76631589hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38499956
hg19499956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734687
Supporting Variants
SamplesSSM020
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3, UPK3B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6930776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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