A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989093



Internal ID12980208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78038822..78346955hg38UCSC Ensembl
Innerchr2:78265948..78574081hg19UCSC Ensembl
Innerchr2:78119456..78427589hg18UCSC Ensembl
Innerchr2:78177603..78485736hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38308134
hg19308134
hg18308134
hg17308134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34528
Supporting Variants
SamplesNA18558
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989093
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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