A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734264



Internal ID9968591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36939293..36939463hg38UCSC Ensembl
Outerchr7:36978898..36979068hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6671477, essv6719654, essv6701345, essv6834001
SamplesSSM082, SSM031, SSM039, SSM044
Known GenesELMO1
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)esv2734264
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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