A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890646



Internal ID19184730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70942497..71060271hg38UCSC Ensembl
Outerchr5:70913675..71083639hg38UCSC Ensembl
Innerchr5:70238324..70356098hg19UCSC Ensembl
Outerchr5:70209502..70379466hg19UCSC Ensembl
Innerchr5:70274080..70391854hg18UCSC Ensembl
Outerchr5:70245258..70415222hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38169965
hg19169965
hg18169965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e224
Supporting Variantsessv25783787, essv25780867, essv25784974, essv25785210, essv25783854, essv25784044, essv25783268, essv25783700, essv25783135, essv25784828, essv25784850, essv25784710, essv25784955, essv25784983, essv25779898
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)esv3890646
Frequency
Sample Size3017
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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