A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734466



Internal ID9968793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56584767..56590827hg38UCSC Ensembl
Outerchr7:56652460..56658520hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg386061
hg196061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957456, essv6845161, essv6771078, essv6754753, essv6667704, essv6767746, essv6740226, essv6939292
SamplesSSM064, SSM065, SSM058, SSM026, SSM085, SSM022, SSM052, SSM030
Known Genes
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)esv2734466
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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