A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16063186



Internal ID6065002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43715669..43716575hg38UCSC Ensembl
Innerchr19:43715719..43716525hg38UCSC Ensembl
Outerchr19:43715619..43716625hg38UCSC Ensembl
chr19:44219821..44220727hg19UCSC Ensembl
Innerchr19:44219871..44220677hg19UCSC Ensembl
Outerchr19:44219771..44220777hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644475
Supporting Variants
SamplesHG01110
Known GenesIRGC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16063186
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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