A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890651



Internal ID18838049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70880938..71037342hg38UCSC Ensembl
Outerchr5:70862010..71083639hg38UCSC Ensembl
Innerchr5:70176765..70333169hg19UCSC Ensembl
Outerchr5:70157837..70379466hg19UCSC Ensembl
Innerchr5:70212521..70368925hg18UCSC Ensembl
Outerchr5:70193593..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38221630
hg19221630
hg18221630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e224
Supporting Variantsessv25784438, essv25782414, essv25784861, essv25786921, essv25780955, essv25782731, essv25783556
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SERF1A, SERF1B, SMN1, SMN2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890651
Frequency
Sample Size3017
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer