A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720536



Internal ID10304172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112432929..112433244hg38UCSC Ensembl
Outerchr2:113190506..113190821hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853776, essv6726200
SamplesSSM046, SSM087
Known GenesRGPD5, RGPD8
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)esv2720536
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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