A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799323



Internal ID18814809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44318437..44418772hg38UCSC Ensembl
Innerchr2:44545576..44645911hg19UCSC Ensembl
Innerchr2:44399080..44499415hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38100336
hg19100336
hg18100336
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892026
Supporting Variants
Samples
Known GenesCAMKMT, PREPL, SLC3A1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799323
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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