A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986978



Internal ID12981024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:13975447..14043873hg38UCSC Ensembl
Innerchr1:14301942..14370368hg19UCSC Ensembl
Innerchr1:14174529..14242955hg18UCSC Ensembl
Innerchr1:14047248..14115674hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3868427
hg1968427
hg1868427
hg1768427
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986978
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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