A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796801



Internal ID18834304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145672100..145809105hg38UCSC Ensembl
Innerchr1:145625979..145762959hg19UCSC Ensembl
Innerchr1:144337336..144474316hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38137006
hg19136981
hg18136981
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894089
Supporting Variants
Samples
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=31
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796801
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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