A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607413



Internal ID6994347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162116250..162116854hg38UCSC Ensembl
Innerchr5:162116300..162116804hg38UCSC Ensembl
Outerchr5:162116142..162116962hg38UCSC Ensembl
chr5:161543256..161543860hg19UCSC Ensembl
Innerchr5:161543306..161543810hg19UCSC Ensembl
Outerchr5:161543148..161543968hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38605
hg19605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12119031, essv12119043, essv12119034, essv12119039, essv12119027, essv12119036, essv12119045, essv12119048, essv12119038, essv12119030, essv12119047, essv12119023, essv12119024, essv12119035, essv12119033, essv12119037, essv12119032, essv12119044, essv12119028, essv12119041, essv12119026, essv12119040, essv12119046, essv12119029, essv12119042, essv12119025
SamplesHG03096, NA18917, HG01456, NA19190, NA18870, NA19314, HG03464, NA19119, NA19198, NA20287, NA19172, NA20355, HG03294, HG01990, NA19308, NA19019, HG02546, NA19454, NA20351, NA19380, NA19428, NA19467, NA19900, NA19146, HG01191, NA19429
Known GenesGABRG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607413
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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