A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981002



Internal ID12972667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118714335..118764335hg38UCSC Ensembl
Innerchr1:119256958..119306958hg19UCSC Ensembl
Innerchr1:119058481..119108481hg18UCSC Ensembl
Innerchr1:118969000..119019000hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3850001
hg1950001
hg1850001
hg1750001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750799
Supporting Variants
SamplesBEC_336
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981002
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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