A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857206



Internal ID9908283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253827..32253902hg38UCSC Ensembl
Outerchr12:32406761..32406836hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745736, esv2745734, esv2745737, esv2745735
Supporting Variants
SamplesSSM087
Known GenesBICD1
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)essv6857206
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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