A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892428



Internal ID19183248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:93629239..93687573hg38UCSC Ensembl
Outerchr13:93610953..93687573hg38UCSC Ensembl
Innerchr13:94281492..94339826hg19UCSC Ensembl
Outerchr13:94263206..94339826hg19UCSC Ensembl
Innerchr13:93079493..93137827hg18UCSC Ensembl
Outerchr13:93061207..93137827hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3876621
hg1976621
hg1876621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25800295, essv25800133
Samples
Known GenesGPC6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892428
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer