A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997475



Internal ID6597930
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643750
Supporting Variants
SamplesNA20770
Known GenesEMR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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