A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734292



Internal ID10317928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:38541245..38541330hg38UCSC Ensembl
Outerchr7:38580845..38580930hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975226, essv6964133
SamplesSSM027, SSM029
Known GenesAMPH
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)esv2734292
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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