A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35055



Internal ID12644405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45464290..45589540hg38UCSC Ensembl
Innerchr17:43541656..43666906hg19UCSC Ensembl
Innerchr17:40897439..41022689hg18UCSC Ensembl
Innerchr17:40897439..41022689hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38125251
hg19125251
hg18125251
hg17125251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124e55
Supporting Variantsessv6989055, essv6988075
SamplesNA12802
Known GenesLRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
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)esv35055
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer