A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849574



Internal ID9901413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:63777287..65844195hg38UCSC Ensembl
Outerchr7:63237665..65309182hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382066909
hg192071518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734568, esv2734570
Supporting Variants
SamplesSSM086
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)essv6849574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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