A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644632



Internal ID6684698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49943702..49950223hg38UCSC Ensembl
Innerchr19:49943710..49950215hg38UCSC Ensembl
Outerchr19:49943694..49950231hg38UCSC Ensembl
chr19:50446959..50453480hg19UCSC Ensembl
Innerchr19:50446967..50453472hg19UCSC Ensembl
Outerchr19:50446951..50453488hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386522
hg196522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075602, essv16075600, essv16075601, essv16075604, essv16075603, essv16075605
SamplesHG02496, NA18865, HG03401, HG01485, NA18853, NA19121
Known GenesSIGLEC11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644632
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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