A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644611



Internal ID6684677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49049327..49056069hg38UCSC Ensembl
Innerchr19:49049327..49056069hg38UCSC Ensembl
Outerchr19:49049146..49056230hg38UCSC Ensembl
chr19:49552584..49559326hg19UCSC Ensembl
Innerchr19:49552584..49559326hg19UCSC Ensembl
Outerchr19:49552403..49559487hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386743
hg196743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075079, essv16075080, essv16075083, essv16075074, essv16075078, essv16075075, essv16075076, essv16075081, essv16075084, essv16075082, essv16075077, essv16075085, essv16075073
SamplesHG01768, NA20535, HG00331, HG01092, HG01402, HG02236, HG01111, HG00341, HG01063, NA12889, HG01886, HG01164, NA20792
Known GenesCGB7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644611
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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