A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585394



Internal ID6972918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19298536..19299712hg38UCSC Ensembl
Innerchr1:19298587..19299661hg38UCSC Ensembl
Outerchr1:19298485..19299763hg38UCSC Ensembl
chr1:19625030..19626206hg19UCSC Ensembl
Innerchr1:19625081..19626155hg19UCSC Ensembl
Outerchr1:19624979..19626257hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9879000, essv9878999, essv9878997, essv9878995, essv9879001, essv9878998, essv9878996
SamplesHG02050, HG02736, HG04185, HG01589, NA20870, NA20906, HG03867
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585394
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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