A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793738



Internal ID10199867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177351465..177351642hg38UCSC Ensembl
Outerchr2:178216193..178216370hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721177, esv2721180, esv2721179
Supporting Variants
SamplesSSM071
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)essv6793738
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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