A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818502



Internal ID9874026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:32635226..34969478hg38UCSC Ensembl
Outerchr7:32674838..35009090hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg382334253
hg192334253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221
Supporting Variants
SamplesSSM078
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)essv6818502
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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