A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734363



Internal ID9968690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:47972564..47972872hg38UCSC Ensembl
Outerchr7:48012161..48012469hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919113, essv6826652, essv6943715, essv6939284, essv6849510, essv6889999
SamplesSSM022, SSM086, SSM012, SSM017, SSM023, SSM080
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)esv2734363
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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