A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781872



Internal ID19165708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211486942..211548950hg38UCSC Ensembl
Innerchr2:212351667..212413675hg19UCSC Ensembl
Innerchr2:212059912..212121920hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3862009
hg1962009
hg1862009
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893548
Supporting Variants
Samples
Known GenesERBB4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781872
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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