A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604751



Internal ID6991779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37835063..37838062hg38UCSC Ensembl
Innerchr5:37835063..37838062hg38UCSC Ensembl
Outerchr5:37834563..37838562hg38UCSC Ensembl
chr5:37835165..37838164hg19UCSC Ensembl
Innerchr5:37835165..37838164hg19UCSC Ensembl
Outerchr5:37834665..37838664hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871294, essv11871288, essv11871296, essv11871304, essv11871295, essv11871299, essv11871300, essv11871303, essv11871284, essv11871292, essv11871285, essv11871293, essv11871301, essv11871297, essv11871298, essv11871302, essv11871286, essv11871289, essv11871291, essv11871287, essv11871290
SamplesNA11995, NA19020, HG00150, NA19443, HG00369, NA19036, NA20412, NA19445, NA18954, NA12718, NA19031, NA19440, HG01272, NA18992, NA19741, NA19117, NA18994, NA19185, NA19146, NA19312, NA19214
Known GenesGDNF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604751
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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