A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914273



Internal ID9678716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95950567..95956450hg38UCSC Ensembl
Outerchr2:96616315..96622198hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg385884
hg195884
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720407, esv2720404
Supporting Variants
SamplesSSM016
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)essv6914273
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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