A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698046



Internal ID10112488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2493792..2494260hg38UCSC Ensembl
Outerchr7:2533426..2533894hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733853, esv2733854
Supporting Variants
SamplesSSM038
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)essv6698046
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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