A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671472



Internal ID9739486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32635353..34969547hg38UCSC Ensembl
Outerchr7:32674965..35009159hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg382334195
hg192334195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221
Supporting Variants
SamplesSSM031
Known GenesBBS9, BMPER, DPY19L1, DPY19L1P1, FKBP9, KBTBD2, LINC00997, MIR550A2, MIR550B2, NPSR1, NPSR1-AS1, NT5C3A, RP9, RP9P, ZNRF2P1
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)essv6671472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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