A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34370



Internal ID12643723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115181074..115625337hg38UCSC Ensembl
Innerchr1:115723695..116167958hg19UCSC Ensembl
Innerchr1:115525218..115969481hg18UCSC Ensembl
Innerchr1:115435737..115880000hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38444264
hg19444264
hg18444264
hg17444264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978647, essv6986672, essv6978649, essv6978648, essv6990265
SamplesNA12057
Known GenesNGF
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)esv34370
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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