A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606999



Internal ID6647241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:142429551..143065624hg38UCSC Ensembl
Innerchr5:142429701..143065474hg38UCSC Ensembl
Outerchr5:142429401..143065774hg38UCSC Ensembl
chr5:141809116..142445189hg19UCSC Ensembl
Innerchr5:141809266..142445039hg19UCSC Ensembl
Outerchr5:141808966..142445339hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38636074
hg19636074
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12080884, essv12080883
SamplesHG03837, NA19917
Known GenesARHGAP26, ARHGAP26-AS1, FGF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606999
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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