A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607018



Internal ID6647260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143238954..143240288hg38UCSC Ensembl
Innerchr5:143238954..143240288hg38UCSC Ensembl
Outerchr5:143238665..143240615hg38UCSC Ensembl
chr5:142618519..142619853hg19UCSC Ensembl
Innerchr5:142618519..142619853hg19UCSC Ensembl
Outerchr5:142618230..142620180hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381335
hg191335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12083728, essv12083731, essv12083730, essv12083742, essv12083724, essv12083738, essv12083727, essv12083739, essv12083743, essv12083746, essv12083745, essv12083725, essv12083741, essv12083733, essv12083737, essv12083740, essv12083729, essv12083726, essv12083732, essv12083736, essv12083744, essv12083735, essv12083734, essv12083747, essv12083723
SamplesNA20588, NA12842, HG00102, HG02231, NA20752, HG03944, NA12341, NA12813, HG00127, HG00154, HG04225, NA20506, NA20519, HG01390, HG00273, NA11840, NA20538, NA06989, HG01708, HG01700, NA20821, NA20504, NA19726, NA19900, HG01578
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607018
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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