A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751681



Internal ID12985233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41053891..41071732hg38UCSC Ensembl
Innerchr17:39210143..39227984hg19UCSC Ensembl
Innerchr17:36463669..36481510hg18UCSC Ensembl
Innerchr17:36463669..36481510hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3817842
hg1917842
hg1817842
hg1717842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985373, essv6990122
SamplesSPC_156
Known GenesKRTAP2-2, KRTAP2-3, KRTAP2-4
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)esv2751681
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