A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987918



Internal ID12972890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246097..22288239hg38UCSC Ensembl
Innerchr15:20451350..22576190hg19UCSC Ensembl
Innerchr15:18711364..20077554hg18UCSC Ensembl
Innerchr15:18711364..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382042143
hg192124841
hg181366191
hg171366191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751481
Supporting Variants
SamplesBEC_359
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987918
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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