A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989781



Internal ID12629534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241976520..242072479hg38UCSC Ensembl
Innerchr2:242918671..243014630hg19UCSC Ensembl
Innerchr2:242567344..242663303hg18UCSC Ensembl
Innerchr2:242634423..242730382hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3895960
hg1995960
hg1895960
hg1795960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751858
Supporting Variants
SamplesBEC_647
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989781
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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