A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982780



Internal ID12975528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44968455..44995855hg38UCSC Ensembl
Innerchr4:44970472..44997872hg19UCSC Ensembl
Innerchr4:44665229..44692629hg18UCSC Ensembl
Innerchr4:44811400..44838800hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3827401
hg1927401
hg1827401
hg1727401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752047
Supporting Variants
SamplesBEC_592
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982780
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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