A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750840



Internal ID12637706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79603397..81378201hg38UCSC Ensembl
Innerchr1:80069082..81843886hg19UCSC Ensembl
Innerchr1:79841670..81616474hg18UCSC Ensembl
Innerchr1:79781103..81555907hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381774805
hg191774805
hg181774805
hg171774805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987852, essv6980804, essv6987853, essv6989199, essv6980803
SamplesBEC_175
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750840
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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