A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746511



Internal ID9980795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123752956..123753383hg38UCSC Ensembl
Outerchr12:124237503..124237930hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920270, essv6959382, essv6713061, essv6924423, essv6779533, essv6698808, essv6842507, essv6695628, essv6831373, essv6897713, essv6882386, essv6867260, essv6873741, essv6931920, essv6724571, essv6815530
SamplesSSM091, SSM084, SSM099, SSM042, SSM089, SSM020, SSM045, SSM067, SSM094, SSM077, SSM017, SSM037, SSM038, SSM026, SSM018, SSM081
Known GenesATP6V0A2
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)esv2746511
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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