A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6732n54



Internal ID20140156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23383306..23387012hg38UCSC Ensembl
chr2:23606177..23609883hg19UCSC Ensembl
chr2:23459682..23463388hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383707
hg193707
hg183707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581175, nsv581174
Samples
Known GenesKLHL29
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6732n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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