A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985504



Internal ID12626242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52307149..52361549hg38UCSC Ensembl
Innerchr12:52700933..52755333hg19UCSC Ensembl
Innerchr12:50987200..51041600hg18UCSC Ensembl
Innerchr12:50987200..51041600hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854401
hg1954401
hg1854401
hg1754401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751105
Supporting Variants
SamplesBEC_361
Known GenesKRT83, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985504
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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