A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745495



Internal ID10326465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7842503..7972788hg38UCSC Ensembl
Outerchr12:7995099..8125384hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130286
hg19130286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167e201
Supporting Variantsessv6805310, essv6940301, essv6970768, essv6977118, essv6834676, essv6787727, essv6749661, essv6728306, essv6965732, essv6716763, essv6775670, essv6738031, essv6845927, essv6771609, essv6823595, essv6938684, essv6904888
SamplesSSM008, SSM027, SSM046, SSM079, SSM013, SSM009, SSM028, SSM069, SSM029, SSM003, SSM066, SSM085, SSM007, SSM022, SSM010, SSM043, SSM056
Known GenesSLC2A14, SLC2A3
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)esv2745495
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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