A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989923



Internal ID12977782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205487770..205590770hg38UCSC Ensembl
Innerchr2:206352494..206455494hg19UCSC Ensembl
Innerchr2:206060739..206163739hg18UCSC Ensembl
Innerchr2:206178000..206281000hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38103001
hg19103001
hg18103001
hg17103001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751840
Supporting Variants
SamplesBEC_792
Known GenesPARD3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989923
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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