A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751783



Internal ID12985335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21283020..21543535hg38UCSC Ensembl
Innerchr19:21465822..21726337hg19UCSC Ensembl
Innerchr19:21257662..21518177hg18UCSC Ensembl
Innerchr19:21257662..21518177hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38260516
hg19260516
hg18260516
hg17260516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983949, essv6989884, essv6983950, essv6989401
SamplesBEC_737
Known GenesLINC00664, ZNF429, ZNF493, ZNF708, ZNF738
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751783
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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