A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644546



Internal ID7031301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47147304..47148860hg38UCSC Ensembl
Innerchr19:47147306..47148859hg38UCSC Ensembl
Outerchr19:47147303..47148862hg38UCSC Ensembl
chr19:47650561..47652117hg19UCSC Ensembl
Innerchr19:47650563..47652116hg19UCSC Ensembl
Outerchr19:47650560..47652119hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16071012, essv16071020, essv16071017, essv16071006, essv16071015, essv16071010, essv16071022, essv16071019, essv16071021, essv16071008, essv16071009, essv16071023, essv16071011, essv16071024, essv16071016, essv16071001, essv16071003, essv16071025, essv16071005, essv16071007, essv16071014, essv16071013, essv16071002, essv16071018, essv16071004
SamplesHG02231, NA12399, NA20806, NA12413, HG00271, HG01503, NA20796, NA07347, HG00243, HG03830, NA20818, HG01515, HG03858, HG04189, HG00157, HG04134, HG04006, HG02685, NA06986, HG03703, HG03615, HG00372, HG03815, NA21120, HG01507
Known GenesSAE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644546
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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