A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857177



Internal ID9908256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13046164..13046223hg38UCSC Ensembl
Outerchr12:13199098..13199157hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745567, esv2745571, esv2745572
Supporting Variants
SamplesSSM087
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)essv6857177
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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