A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980281



Internal ID5982097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3932245..3944820hg38UCSC Ensembl
Innerchr19:3932745..3944320hg38UCSC Ensembl
Outerchr19:3931245..3945820hg38UCSC Ensembl
chr19:3932243..3944818hg19UCSC Ensembl
Innerchr19:3932743..3944318hg19UCSC Ensembl
Outerchr19:3931243..3945818hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812576
hg1912576
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643483
Supporting Variants
SamplesHG03755
Known GenesNMRK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980281
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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