A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643793



Internal ID7030551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16303494..16310094hg38UCSC Ensembl
Innerchr19:16303544..16310044hg38UCSC Ensembl
Outerchr19:16303356..16310232hg38UCSC Ensembl
chr19:16414305..16420905hg19UCSC Ensembl
Innerchr19:16414355..16420855hg19UCSC Ensembl
Outerchr19:16414167..16421043hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386601
hg196601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16002743, essv16002739, essv16002738, essv16002737, essv16002741, essv16002734, essv16002733, essv16002735, essv16002732, essv16002742, essv16002745, essv16002748, essv16002731, essv16002736, essv16002744, essv16002746, essv16002740, essv16002747
SamplesHG02250, HG00449, NA18550, HG01853, NA18618, HG00451, HG02190, HG02073, HG00982, HG00500, NA18566, HG01865, HG01800, HG02371, HG02379, HG01799, HG02353, HG00472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643793
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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