A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643750



Internal ID7030508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14742457..14743574hg38UCSC Ensembl
Innerchr19:14742457..14743574hg38UCSC Ensembl
Outerchr19:14742184..14743707hg38UCSC Ensembl
chr19:14853269..14854386hg19UCSC Ensembl
Innerchr19:14853269..14854386hg19UCSC Ensembl
Outerchr19:14852996..14854519hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997475
SamplesNA20770
Known GenesEMR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643750
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer