A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15967875



Internal ID5969691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:605297..608431hg38UCSC Ensembl
Innerchr19:605447..608281hg38UCSC Ensembl
Outerchr19:605147..608581hg38UCSC Ensembl
chr19:605297..608431hg19UCSC Ensembl
Innerchr19:605447..608281hg19UCSC Ensembl
Outerchr19:605147..608581hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383135
hg193135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643356
Supporting Variants
SamplesHG02275
Known GenesHCN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15967875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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