A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865984



Internal ID9916181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101036933..101037095hg38UCSC Ensembl
Outerchr7:100680214..100680376hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734921, esv2734888, esv2734923, esv2734913, esv2734919
Supporting Variants
SamplesSSM089
Known GenesMUC17
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)essv6865984
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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