A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587607



Internal ID6627908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154592541..154596791hg38UCSC Ensembl
Innerchr1:154592541..154596791hg38UCSC Ensembl
Outerchr1:154592337..154597001hg38UCSC Ensembl
chr1:154565017..154569267hg19UCSC Ensembl
Innerchr1:154565017..154569267hg19UCSC Ensembl
Outerchr1:154564813..154569477hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384251
hg194251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10152012
SamplesHG01073
Known GenesADAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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