A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849529



Internal ID9901372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:55785310..57103280hg38UCSC Ensembl
Outerchr7:55853003..57170987hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg381317971
hg191317985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734448
Supporting Variants
SamplesSSM086
Known GenesCCT6A, CHCHD2, DKFZp434L192, GBAS, LOC100130849, LOC100240728, LOC101928401, LOC650226, MIR4283-1, MIR4283-2, MRPS17, NUPR1L, PHKG1, PSPH, SEPT14, SNORA15, SUMF2, ZNF713
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)essv6849529
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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