A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643823



Internal ID7030580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17545584..17546498hg38UCSC Ensembl
Innerchr19:17545635..17546447hg38UCSC Ensembl
Outerchr19:17545533..17546549hg38UCSC Ensembl
chr19:17656393..17657307hg19UCSC Ensembl
Innerchr19:17656444..17657256hg19UCSC Ensembl
Outerchr19:17656342..17657358hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003697, essv16003700, essv16003699, essv16003696, essv16003698
SamplesHG02050, NA19917, NA19440, HG03112, NA19468
Known GenesFAM129C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643823
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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