A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734149



Internal ID10317785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25602166..25602298hg38UCSC Ensembl
Outerchr7:25641786..25641918hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671455, essv6865844, essv6964105, essv6861127, essv6849462
SamplesSSM027, SSM088, SSM089, SSM031, SSM086
Known Genes
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)esv2734149
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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