A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983303



Internal ID12629377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110077402..110209090hg38UCSC Ensembl
Innerchr2:110834979..110966667hg19UCSC Ensembl
Innerchr2:110192268..110323956hg18UCSC Ensembl
Innerchr2:110192354..110324042hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38131689
hg19131689
hg18131689
hg17131689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751814
Supporting Variants
SamplesBEC_636
Known GenesMALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983303
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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