A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784443



Internal ID18818404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38666518..38724524hg38UCSC Ensembl
Innerchr2:38893660..38951666hg19UCSC Ensembl
Innerchr2:38747164..38805170hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3858007
hg1958007
hg1858007
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891860
Supporting Variants
Samples
Known GenesGALM
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784443
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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