A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734188



Internal ID10317824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29648751..29650511hg38UCSC Ensembl
Outerchr7:29688367..29690127hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381761
hg191761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875913, essv6963273, essv6667689, essv6734513, essv6901896, essv6684193, essv6969040, essv6808593, essv6715755
SamplesSSM075, SSM002, SSM092, SSM001, SSM034, SSM004, SSM043, SSM049, SSM030
Known GenesLOC646762
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)esv2734188
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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