A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955858



Internal ID10064643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151368670..151368788hg38UCSC Ensembl
Outerchr3:151086458..151086576hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726056, esv2726057
Supporting Variants
SamplesSSM026
Known GenesMED12L, P2RY12
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)essv6955858
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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