A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588676



Internal ID6976092
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10280505, essv10280506, essv10280504
SamplesHG01531, NA12400, HG00383
Known GenesCD46
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588676
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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