A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745653



Internal ID10326623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26149968..26150926hg38UCSC Ensembl
Outerchr12:26302901..26303859hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851173, essv6752566, essv6939096, essv6834898, essv6673145, essv6888001, essv6857191, essv6772009, essv6737888
SamplesSSM008, SSM087, SSM050, SSM057, SSM096, SSM003, SSM031, SSM086, SSM010
Known Genes
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)esv2745653
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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