A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981179



Internal ID12972946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117497460..117638782hg38UCSC Ensembl
Innerchr2:118255036..118396358hg19UCSC Ensembl
Innerchr2:117971506..118112828hg18UCSC Ensembl
Innerchr2:117971266..118112588hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38141323
hg19141323
hg18141323
hg17141323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751822
Supporting Variants
SamplesBEC_361
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981179
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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