A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819787



Internal ID10007037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179557156..179557988hg38UCSC Ensembl
Outerchr2:180421883..180422715hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721199
Supporting Variants
SamplesSSM010
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)essv6819787
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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