A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751995



Internal ID12985547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:22509514..22558705hg38UCSC Ensembl
Innerchr3:22551005..22600196hg19UCSC Ensembl
Innerchr3:22526009..22575200hg18UCSC Ensembl
Innerchr3:22526009..22575200hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3849192
hg1949192
hg1849192
hg1749192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987996, essv6989254
SamplesBEC_312
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751995
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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