A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672365



Internal ID9993561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179557385..179557805hg38UCSC Ensembl
Outerchr2:180422112..180422532hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721199
Supporting Variants
SamplesSSM005
Known GenesZNF385B
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)essv6672365
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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