A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982945



Internal ID12974578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27386477..27456541hg38UCSC Ensembl
Innerchr10:27675406..27745470hg19UCSC Ensembl
Innerchr10:27715412..27785476hg18UCSC Ensembl
Innerchr10:27715412..27785476hg17UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3870065
hg1970065
hg1870065
hg1770065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750890
Supporting Variants
SamplesBEC_529
Known GenesPTCHD3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982945
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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