A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604363



Internal ID6991393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:23048681..23051172hg38UCSC Ensembl
Innerchr5:23048714..23051139hg38UCSC Ensembl
Outerchr5:23048648..23051205hg38UCSC Ensembl
chr5:23048790..23051281hg19UCSC Ensembl
Innerchr5:23048823..23051248hg19UCSC Ensembl
Outerchr5:23048757..23051314hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg382492
hg192492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11841711, essv11841702, essv11841693, essv11841697, essv11841708, essv11841704, essv11841684, essv11841681, essv11841692, essv11841696, essv11841701, essv11841700, essv11841705, essv11841695, essv11841689, essv11841682, essv11841707, essv11841685, essv11841698, essv11841687, essv11841699, essv11841694, essv11841690, essv11841686, essv11841691, essv11841709, essv11841706, essv11841683, essv11841710, essv11841703, essv11841688
SamplesNA19397, HG02318, NA19350, NA20298, HG02621, NA19404, NA19036, HG02502, NA19025, HG02879, HG03343, NA19403, NA19043, NA18910, HG03124, NA19449, HG02445, NA20282, HG02807, HG02799, HG02546, NA19428, HG02839, NA19323, HG03025, HG02646, HG03049, NA19474, HG02679, HG02808, HG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604363
Frequency
Sample Size2504
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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