A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983784



Internal ID12629237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20669054..20802654hg38UCSC Ensembl
Innerchr19:20851860..20985460hg19UCSC Ensembl
Innerchr19:20643700..20777300hg18UCSC Ensembl
Innerchr19:20643700..20777300hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38133601
hg19133601
hg18133601
hg17133601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751782
Supporting Variants
SamplesBEC_626
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983784
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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