A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911673



Internal ID9675956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139424883..139425256hg38UCSC Ensembl
Outerchr7:139109629..139110002hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735232
Supporting Variants
SamplesSSM015
Known GenesLOC100129148
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)essv6911673
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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