A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894001



Internal ID18838169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109050104..109206318hg38UCSC Ensembl
Outerchr1:109050104..109206318hg38UCSC Ensembl
Innerchr1:109592726..109748940hg19UCSC Ensembl
Outerchr1:109592726..109748940hg19UCSC Ensembl
Innerchr1:109394249..109550463hg18UCSC Ensembl
Outerchr1:109394249..109550463hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38156215
hg19156215
hg18156215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789557
Samples
Known GenesC1orf194, KIAA1324, SCARNA2, TAF13, TMEM167B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894001
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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