A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990249



Internal ID12978716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..20994922hg38UCSC Ensembl
Innerchr15:20191741..21200251hg19UCSC Ensembl
Innerchr15:18451755..19464910hg18UCSC Ensembl
Innerchr15:18451755..19464910hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381008435
hg191008511
hg181013156
hg171013156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751464
Supporting Variants
SamplesNA11882
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990249
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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