A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734570



Internal ID9968898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:63775178..65844276hg38UCSC Ensembl
Outerchr7:63235556..65309263hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg382069099
hg192073708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1099e201
Supporting Variantsessv6865930, essv6855655, essv6861219, essv6849574, essv6818558, essv6671562
SamplesSSM087, SSM088, SSM089, SSM031, SSM086, SSM078
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)esv2734570
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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