A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751947



Internal ID12638813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25245079..25534817hg38UCSC Ensembl
Innerchr22:25641046..25930784hg19UCSC Ensembl
Innerchr22:23971046..24260784hg18UCSC Ensembl
Innerchr22:23965600..24255338hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38289739
hg19289739
hg18289739
hg17289739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv175e55
Supporting Variantsessv6985938, essv6985936, essv6985939, essv6988964, essv6985937
SamplesSPC_86
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
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)esv2751947
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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