A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588819



Internal ID6629110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216008328..216013689hg38UCSC Ensembl
Innerchr1:216008378..216013639hg38UCSC Ensembl
Outerchr1:216008240..216013777hg38UCSC Ensembl
chr1:216181670..216187031hg19UCSC Ensembl
Innerchr1:216181720..216186981hg19UCSC Ensembl
Outerchr1:216181582..216187119hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385362
hg195362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293098, essv10293100, essv10293099
SamplesHG03112, HG01879, HG02938
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588819
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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