A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588817



Internal ID6629108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215693045..215694085hg38UCSC Ensembl
Innerchr1:215693095..215694035hg38UCSC Ensembl
Outerchr1:215692949..215694181hg38UCSC Ensembl
chr1:215866387..215867427hg19UCSC Ensembl
Innerchr1:215866437..215867377hg19UCSC Ensembl
Outerchr1:215866291..215867523hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293096
SamplesHG02239
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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