A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671562



Internal ID9739405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:63777247..65844183hg38UCSC Ensembl
Outerchr7:63237625..65309170hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382066937
hg192071546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734568, esv2734570
Supporting Variants
SamplesSSM031
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)essv6671562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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