A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746938



Internal ID9981222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132290488..132290971hg38UCSC Ensembl
Outerchr12:132867074..132867557hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945066, essv6688370, essv6677924, essv6791957, essv6831401, essv6834973, essv6732236, essv6787853, essv6842540, essv6851369, essv6823734
SamplesSSM082, SSM086, SSM084, SSM035, SSM032, SSM047, SSM069, SSM023, SSM079, SSM081, SSM070
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)esv2746938
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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