A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9889340



Internal ID6514633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23148701..23153600hg38UCSC Ensembl
Innerchr1:23148701..23153600hg38UCSC Ensembl
Outerchr1:23148415..23153831hg38UCSC Ensembl
chr1:23475194..23480093hg19UCSC Ensembl
Innerchr1:23475194..23480093hg19UCSC Ensembl
Outerchr1:23474908..23480324hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585477
Supporting Variants
SamplesHG00171
Known GenesLUZP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9889340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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