A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957456



Internal ID9719396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56584799..56590820hg38UCSC Ensembl
Outerchr7:56652492..56658513hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg386022
hg196022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734466, esv2734448
Supporting Variants
SamplesSSM026
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)essv6957456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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