A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988915



Internal ID12636397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229710778..229888248hg38UCSC Ensembl
Innerchr2:230575494..230752964hg19UCSC Ensembl
Innerchr2:230283738..230461208hg18UCSC Ensembl
Innerchr2:230400999..230578469hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38177471
hg19177471
hg18177471
hg17177471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751841
Supporting Variants
SamplesSPC_138
Known GenesDNER, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988915
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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