A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751102



Internal ID12637968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52282619..52383252hg38UCSC Ensembl
Innerchr12:52676403..52777036hg19UCSC Ensembl
Innerchr12:50962670..51063303hg18UCSC Ensembl
Innerchr12:50962670..51063303hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38100634
hg19100634
hg18100634
hg17100634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e55
Supporting Variantsessv6984189, essv6984192, essv6984191, essv6987519, essv6984190
SamplesBEC_8
Known GenesKRT81, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751102
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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