A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598808



Internal ID6985943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177934475..177936770hg38UCSC Ensembl
Innerchr3:177934476..177936769hg38UCSC Ensembl
Outerchr3:177934474..177936771hg38UCSC Ensembl
chr3:177652263..177654558hg19UCSC Ensembl
Innerchr3:177652264..177654557hg19UCSC Ensembl
Outerchr3:177652262..177654559hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg382296
hg192296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11238195, essv11238200, essv11238197, essv11238198, essv11238194, essv11238199, essv11238196
SamplesHG04202, HG03667, HG02490, HG03947, HG03871, HG02649, HG03755
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598808
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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