A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745659



Internal ID9979943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26783949..26784160hg38UCSC Ensembl
Outerchr12:26936882..26937093hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959259, essv6685079
SamplesSSM034, SSM026
Known GenesITPR2
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)esv2745659
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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