A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989543



Internal ID12974135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22042495hg38UCSC Ensembl
Innerchr15:20186408..22330446hg19UCSC Ensembl
Innerchr15:18446422..19831810hg18UCSC Ensembl
Innerchr15:18446422..19831810hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382061341
hg192144039
hg181385389
hg171385389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751420
Supporting Variants
SamplesBEC_501
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989543
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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