A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892026



Internal ID18839736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44318437..44418772hg38UCSC Ensembl
Outerchr2:44318437..44418772hg38UCSC Ensembl
Innerchr2:44545576..44645911hg19UCSC Ensembl
Outerchr2:44545576..44645911hg19UCSC Ensembl
Innerchr2:44399080..44499415hg18UCSC Ensembl
Outerchr2:44399080..44499415hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38100336
hg19100336
hg18100336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799323
Samples
Known GenesCAMKMT, PREPL, SLC3A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892026
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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