A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865978



Internal ID9916175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100958890..100958966hg38UCSC Ensembl
Outerchr7:100551019..100551095hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734897, esv2734888, esv2734896
Supporting Variants
SamplesSSM089
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)essv6865978
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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