A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984130



Internal ID12977730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52448949..52470449hg38UCSC Ensembl
Innerchr12:52842733..52864233hg19UCSC Ensembl
Innerchr12:51129000..51150500hg18UCSC Ensembl
Innerchr12:51129000..51150500hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3821501
hg1921501
hg1821501
hg1721501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751106
Supporting Variants
SamplesBEC_783
Known GenesKRT6B, KRT6C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984130
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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