A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782082



Internal ID18817192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51202980..51243385hg38UCSC Ensembl
Innerchr12:51596763..51637169hg19UCSC Ensembl
Innerchr12:49883030..49923436hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840406
hg1940407
hg1840407
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892200
Supporting Variants
Samples
Known GenesDAZAP2, POU6F1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782082
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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