A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751106



Internal ID5951640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52434655..52470456hg38UCSC Ensembl
Innerchr12:52828439..52864240hg19UCSC Ensembl
Innerchr12:51114706..51150507hg18UCSC Ensembl
Innerchr12:51114706..51150507hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3835802
hg1935802
hg1835802
hg1735802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984130, essv6989413
SamplesBEC_783
Known GenesKRT6B, KRT6C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751106
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer