A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751807



Internal ID12638673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6820940..7112259hg38UCSC Ensembl
Innerchr19:6820951..7112270hg19UCSC Ensembl
Innerchr19:6771951..7063270hg18UCSC Ensembl
Innerchr19:6771951..7063270hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38291320
hg19291320
hg18291320
hg17291320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv136e55
Supporting Variantsessv6988774, essv6987540, essv6987539, essv6984240, essv6984241
SamplesBEC_817
Known GenesEMR1, EMR4P, FLJ25758, INSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, VAV1, 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)esv2751807
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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