A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731173



Internal ID9965490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3106180..3106381hg38UCSC Ensembl
Outerchr10:3148372..3148573hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958642, essv6672558, essv6861929, essv6965181, essv6819245, essv6866675, essv6850601
SamplesSSM027, SSM088, SSM026, SSM089, SSM031, SSM086, SSM078
Known GenesPFKP
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)esv2731173
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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