A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644560



Internal ID7031315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47767766..47774956hg38UCSC Ensembl
Innerchr19:47767766..47774956hg38UCSC Ensembl
Outerchr19:47767462..47775257hg38UCSC Ensembl
chr19:48271023..48278213hg19UCSC Ensembl
Innerchr19:48271023..48278213hg19UCSC Ensembl
Outerchr19:48270719..48278514hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387191
hg197191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071062, essv16071064, essv16071061, essv16071063, essv16071065, essv16071060
SamplesHG03753, HG02769, NA19678, NA19719, HG01190, NA19679
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644560
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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