A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799384



Internal ID19166529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:136353829..136566416hg38UCSC Ensembl
Innerchr2:137111399..137323986hg19UCSC Ensembl
Innerchr2:136827869..137040456hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38212588
hg19212588
hg18212588
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893426
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=56
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799384
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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