A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723556



Internal ID9787997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100993118..101003244hg38UCSC Ensembl
Outerchr7:100636399..100646525hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3810127
hg1910127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734888, esv2734908
Supporting Variants
SamplesSSM045
Known GenesMUC12
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)essv6723556
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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