A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746931



Internal ID9981215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132247457..132247952hg38UCSC Ensembl
Outerchr12:132824010..132824505hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6905005, essv6702560, essv6695666, essv6772157, essv6827826, essv6857374, essv6741167, essv6894747, essv6900310, essv6791956
SamplesSSM065, SSM087, SSM039, SSM013, SSM080, SSM037, SSM070, SSM052, SSM098, SSM012
Known GenesGALNT9
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)esv2746931
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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