A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764220



Internal ID9654735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149557630..149598991hg38UCSC Ensembl
Outerchr7:149254721..149296082hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3841362
hg1941362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735331, esv2735330
Supporting Variants
SamplesSSM008
Known GenesZNF767
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)essv6764220
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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