A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11938425



Internal ID2198064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69295975..69348456hg38UCSC Ensembl
Innerchr5:69296125..69348306hg38UCSC Ensembl
Outerchr5:69295825..69348606hg38UCSC Ensembl
chr5:68591802..68644283hg19UCSC Ensembl
Innerchr5:68591952..68644133hg19UCSC Ensembl
Outerchr5:68591652..68644433hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3852482
hg1952482
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605380
Supporting Variants
SamplesHG01980
Known GenesCCDC125
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11938425
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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