A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963472



Internal ID9644567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56668032..57140827hg38UCSC Ensembl
Outerchr7:56735725..57208534hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38472796
hg19472810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734468
Supporting Variants
SamplesSSM004
Known GenesLOC100130849, MIR4283-1, MIR4283-2, ZNF479
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)essv6963472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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