A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617325



Internal ID7004211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57729375..57733651hg38UCSC Ensembl
chr8:58641934..58646210hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384277
hg194277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13205997, essv13205994, essv13205998, essv13205999, essv13205992, essv13205995, essv13205993, essv13206000, essv13205996
SamplesHG01816, HG02190, HG02513, HG02090, HG00350, NA19042, HG01804, HG02410, HG02186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617325
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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