A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857325



Internal ID9908391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123752943..123753406hg38UCSC Ensembl
Outerchr12:124237490..124237953hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746510
Supporting Variants
SamplesSSM087
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)essv6857325
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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