A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745572



Internal ID9979856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13046147..13046237hg38UCSC Ensembl
Outerchr12:13199081..13199171hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819672, essv6851159, essv6857177
SamplesSSM087, SSM086, SSM078
Known GenesKIAA1467
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)esv2745572
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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