A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987845



Internal ID12971951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187350858..187954145hg38UCSC Ensembl
Innerchr1:187319990..187923276hg19UCSC Ensembl
Innerchr1:185586613..186189899hg18UCSC Ensembl
Innerchr1:184051647..184654933hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38603288
hg19603287
hg18603287
hg17603287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750817
Supporting Variants
SamplesBEC_132
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987845
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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