A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979949



Internal ID12981016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13968110..14041140hg38UCSC Ensembl
Innerchr1:14294605..14367635hg19UCSC Ensembl
Innerchr1:14167192..14240222hg18UCSC Ensembl
Innerchr1:14039911..14112941hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3873031
hg1973031
hg1873031
hg1773031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35099
Supporting Variants
SamplesNA18863
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979949
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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