A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv70e55



Internal ID6310582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52676403..52791933hg19UCSC Ensembl
chr12:50962670..51078200hg18UCSC Ensembl
chr12:50962670..51078200hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
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
Method
Analysis
Platform
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv70e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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