A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785318



Internal ID19172213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19573383..19580923hg38UCSC Ensembl
Innerchr2:19773144..19780684hg19UCSC Ensembl
Innerchr2:19636625..19644165hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg387541
hg197541
hg187541
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891614
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785318
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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