A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280505



Internal ID282321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207776660..207778437hg38UCSC Ensembl
Innerchr1:207776660..207778437hg38UCSC Ensembl
Outerchr1:207776460..207778613hg38UCSC Ensembl
chr1:207950005..207951782hg19UCSC Ensembl
Innerchr1:207950005..207951782hg19UCSC Ensembl
Outerchr1:207949805..207951958hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381778
hg191778
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588676
Supporting Variants
SamplesHG01531
Known GenesCD46
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280505
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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