A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989199



Internal ID12625358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:79610094..81354894hg38UCSC Ensembl
Innerchr1:80075779..81820579hg19UCSC Ensembl
Innerchr1:79848367..81593167hg18UCSC Ensembl
Innerchr1:79787800..81532600hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381744801
hg191744801
hg181744801
hg171744801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750840
Supporting Variants
SamplesBEC_175
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989199
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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