A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763886



Internal ID9654765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:134537494..134576387hg38UCSC Ensembl
Outerchr7:134222246..134261139hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3838894
hg1938894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735180
Supporting Variants
SamplesSSM008
Known GenesAKR1B10, AKR1B15
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)essv6763886
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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