A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671500



Internal ID10086148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:51085287..51085379hg38UCSC Ensembl
Outerchr7:51152984..51153076hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734387, esv2734388, esv2734386
Supporting Variants
SamplesSSM031
Known GenesCOBL
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)essv6671500
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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