A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745662



Internal ID9979946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27008058..27009451hg38UCSC Ensembl
Outerchr12:27160991..27162384hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381394
hg191394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6838623, essv6812216, essv6681571, essv6803509, essv6885085, essv6931842, essv6728329, essv6971329
SamplesSSM083, SSM046, SSM073, SSM033, SSM020, SSM076, SSM095, SSM004
Known GenesTM7SF3
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)esv2745662
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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