A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587996



Internal ID6628296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175996394..176009351hg38UCSC Ensembl
Innerchr1:175996424..176009321hg38UCSC Ensembl
Outerchr1:175996364..176009381hg38UCSC Ensembl
chr1:175965530..175978487hg19UCSC Ensembl
Innerchr1:175965560..175978457hg19UCSC Ensembl
Outerchr1:175965500..175978517hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3812958
hg1912958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10193323
SamplesHG02629
Known GenesRFWD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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