A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734364



Internal ID9968691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47972603..47972769hg38UCSC Ensembl
Outerchr7:48012200..48012366hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6939284, essv6919113, essv6889999, essv6826652
SamplesSSM017, SSM080, SSM022, SSM012
Known GenesHUS1
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)esv2734364
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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