A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586677



Internal ID6974195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85120235..85129687hg38UCSC Ensembl
Innerchr1:85120237..85129685hg38UCSC Ensembl
Outerchr1:85120233..85129689hg38UCSC Ensembl
chr1:85585918..85595370hg19UCSC Ensembl
Innerchr1:85585920..85595368hg19UCSC Ensembl
Outerchr1:85585916..85595372hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg389453
hg199453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10001856
SamplesHG02032
Known GenesWDR63
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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