A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694563



Internal ID10110258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114888829..114888973hg38UCSC Ensembl
Outerchr7:114528884..114529028hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735053
Supporting Variants
SamplesSSM037
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)essv6694563
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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