A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892200



Internal ID18836334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51202980..51243385hg38UCSC Ensembl
Outerchr12:51202980..51243385hg38UCSC Ensembl
Innerchr12:51596763..51637169hg19UCSC Ensembl
Outerchr12:51596763..51637169hg19UCSC Ensembl
Innerchr12:49883030..49923436hg18UCSC Ensembl
Outerchr12:49883030..49923436hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840406
hg1940407
hg1840407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782082
Samples
Known GenesDAZAP2, POU6F1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892200
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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