A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588642



Internal ID6976058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205691265..205705950hg38UCSC Ensembl
Innerchr1:205691265..205705950hg38UCSC Ensembl
Outerchr1:205691153..205706016hg38UCSC Ensembl
chr1:205660393..205675078hg19UCSC Ensembl
Innerchr1:205660393..205675078hg19UCSC Ensembl
Outerchr1:205660281..205675144hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814686
hg1914686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10271346, essv10271347
SamplesHG02675, HG03028
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588642
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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