A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751808



Internal ID12638674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6896369..7112254hg38UCSC Ensembl
Innerchr19:6896380..7112265hg19UCSC Ensembl
Innerchr19:6847380..7063265hg18UCSC Ensembl
Innerchr19:6847380..7063265hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38215886
hg19215886
hg18215886
hg17215886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv136e55
Supporting Variantsessv6985952, essv6985949, essv6985950, essv6985951, essv6988966
SamplesSPC_87
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)esv2751808
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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