A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984015



Internal ID12630875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52282649..52383249hg38UCSC Ensembl
Innerchr12:52676433..52777033hg19UCSC Ensembl
Innerchr12:50962700..51063300hg18UCSC Ensembl
Innerchr12:50962700..51063300hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38100601
hg19100601
hg18100601
hg17100601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751104
Supporting Variants
SamplesBEC_745
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984015
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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