A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989556



Internal ID12974329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117215194..117337194hg38UCSC Ensembl
Innerchr2:117972770..118094770hg19UCSC Ensembl
Innerchr2:117689240..117811240hg18UCSC Ensembl
Innerchr2:117689000..117811000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38122001
hg19122001
hg18122001
hg17122001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751818
Supporting Variants
SamplesBEC_515
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989556
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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