A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735338



Internal ID10318974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149878667..149879320hg38UCSC Ensembl
Outerchr7:149575756..149576409hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861347, essv6935137, essv6765254, essv6975468, essv6964342
SamplesSSM027, SSM088, SSM021, SSM029, SSM063
Known GenesATP6V0E2
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)esv2735338
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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