A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819683



Internal ID9872635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24307536..24307769hg38UCSC Ensembl
Outerchr12:24460470..24460703hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745645
Supporting Variants
SamplesSSM078
Known GenesSOX5
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)essv6819683
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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