A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983304



Internal ID12629398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110106048..110198048hg38UCSC Ensembl
Innerchr2:110863625..110955625hg19UCSC Ensembl
Innerchr2:110220914..110312914hg18UCSC Ensembl
Innerchr2:110221000..110313000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3892001
hg1992001
hg1892001
hg1792001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751814
Supporting Variants
SamplesBEC_636
Known GenesMALL, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983304
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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