A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695628



Internal ID9762449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123752963..123753368hg38UCSC Ensembl
Outerchr12:124237510..124237915hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746511, esv2746510
Supporting Variants
SamplesSSM037
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)essv6695628
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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