A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785167



Internal ID18823224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246962053..247009263hg38UCSC Ensembl
Innerchr1:247125355..247172565hg19UCSC Ensembl
Innerchr1:245191978..245239188hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3847211
hg1947211
hg1847211
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891381
Supporting Variants
Samples
Known GenesZNF670-ZNF695, ZNF695
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785167
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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