A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781336



Internal ID10189814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177350755..177351284hg38UCSC Ensembl
Outerchr2:178215483..178216012hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721178, esv2721177
Supporting Variants
SamplesSSM068
Known GenesLOC100130691
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)essv6781336
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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