A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890394



Internal ID9938150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:34608148..34608374hg38UCSC Ensembl
Outerchr7:34647760..34647986hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221, esv2734238, esv2734226, esv2734241
Supporting Variants
SamplesSSM097
Known GenesNPSR1-AS1
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)essv6890394
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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