A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987811



Internal ID12982632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193694213..193733213hg38UCSC Ensembl
Innerchr1:193663343..193702343hg19UCSC Ensembl
Innerchr1:191929966..191968966hg18UCSC Ensembl
Innerchr1:190395000..190434000hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3839001
hg1939001
hg1839001
hg1739001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34261
Supporting Variants
SamplesNA19209
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987811
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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