A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747037



Internal ID10328007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132758796..132759494hg38UCSC Ensembl
Outerchr12:133335382..133336080hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38699
hg19699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713104, essv6870801, essv6677936, essv6729375, essv6737984, essv6724611, essv6977425, essv6867300, essv6838731, essv6959460, essv6716914, essv6772173, essv6746934, essv6970943, essv6800337, essv6668276, essv6945079, essv6687999, essv6720791, essv6888081, essv6931963
SamplesSSM083, SSM045, SSM065, SSM050, SSM042, SSM023, SSM028, SSM090, SSM029, SSM096, SSM026, SSM089, SSM032, SSM044, SSM001, SSM072, SSM020, SSM005, SSM055, SSM043, SSM030
Known GenesANKLE2
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)esv2747037
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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