A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842444



Internal ID9894995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32253764..32254476hg38UCSC Ensembl
Outerchr12:32406698..32407410hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745734
Supporting Variants
SamplesSSM084
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)essv6842444
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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