A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746348



Internal ID10327318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:109194411..109194589hg38UCSC Ensembl
Outerchr12:109632216..109632394hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891344, essv6842493, essv6728396, essv6791905, essv6970868, essv6959367, essv6713053, essv6977312, essv6809435, essv6720754, essv6800282, essv6838673, essv6940403
SamplesSSM083, SSM075, SSM046, SSM097, SSM042, SSM028, SSM084, SSM029, SSM026, SSM044, SSM072, SSM022, SSM070
Known GenesACACB
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)esv2746348
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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