A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746626



Internal ID10327596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128112713..128113800hg38UCSC Ensembl
Outerchr12:128597258..128598345hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965914, essv6695637, essv6724577, essv6900702, essv6673279, essv6936225, essv6888057, essv6772997, essv6741146, essv6959403, essv6977357, essv6931934, essv6904982, essv6732211, essv6953308
SamplesSSM100, SSM008, SSM027, SSM045, SSM013, SSM021, SSM047, SSM029, SSM096, SSM026, SSM031, SSM020, SSM037, SSM025, SSM052
Known GenesLOC100996679
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)esv2746626
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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