A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980971



Internal ID12982376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22289825hg38UCSC Ensembl
Innerchr15:20186408..22577776hg19UCSC Ensembl
Innerchr15:18446422..20079140hg18UCSC Ensembl
Innerchr15:18446422..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382308671
hg192391369
hg181632719
hg171632719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34366
Supporting Variants
SamplesNA19159
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980971
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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