A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930828



Internal ID9694616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138615366..138615712hg38UCSC Ensembl
Outerchr7:138300111..138300457hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735219
Supporting Variants
SamplesSSM020
Known GenesSVOPL
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)essv6930828
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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