A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6786678



Internal ID9844806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56694291..56702249hg38UCSC Ensembl
Outerchr7:56761984..56769942hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg387959
hg197959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734469, esv2734448, esv2734468
Supporting Variants
SamplesSSM069
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)essv6786678
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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