A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893548



Internal ID19184368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211486942..211548950hg38UCSC Ensembl
Outerchr2:211486942..211548950hg38UCSC Ensembl
Innerchr2:212351667..212413675hg19UCSC Ensembl
Outerchr2:212351667..212413675hg19UCSC Ensembl
Innerchr2:212059912..212121920hg18UCSC Ensembl
Outerchr2:212059912..212121920hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3862009
hg1962009
hg1862009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25781872
Samples
Known GenesERBB4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893548
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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