A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70e55



Internal ID11595506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52282619..52398149hg38UCSC Ensembl
chr12:52676403..52791933hg19UCSC Ensembl
chr12:50962670..51078200hg18UCSC Ensembl
chr12:50962670..51078200hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38115531
hg19115531
hg18115531
hg17115531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv35152, esv2751105, esv2751102, esv2751103, esv2751104
SamplesNA12239, BEC_361, SPC_140, BEC_8, BEC_745
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv70e55
Frequency
Sample Size771
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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