A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987922



Internal ID12972925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117605194..117641194hg38UCSC Ensembl
Innerchr2:118362770..118398770hg19UCSC Ensembl
Innerchr2:118079240..118115240hg18UCSC Ensembl
Innerchr2:118079000..118115000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3836001
hg1936001
hg1836001
hg1736001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751822
Supporting Variants
SamplesBEC_361
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987922
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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