A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726056



Internal ID10309692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151368388..151368789hg38UCSC Ensembl
Outerchr3:151086176..151086577hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748245, essv6679781, essv6955858, essv6951229, essv6693478, essv6736466, essv6840585, essv6754432, essv6751085, essv6854217, essv6918083
SamplesSSM008, SSM087, SSM050, SSM057, SSM084, SSM026, SSM017, SSM033, SSM037, SSM025, SSM056
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)esv2726056
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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