A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957495



Internal ID9719431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:63745425..65839806hg38UCSC Ensembl
Outerchr7:63205803..65304793hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382094382
hg192098991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734568
Supporting Variants
SamplesSSM026
Known GenesCCT6P1, CCT6P3, ERV3-1, INTS4L2, LINC01005, LOC100128885, LOC441242, LOC641746, MIR6839, SNORA22, YWHAEP1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF679, ZNF680, ZNF727, ZNF735, ZNF736, ZNF92
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)essv6957495
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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