A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896542



Internal ID6521835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33404224..33959487hg38UCSC Ensembl
Innerchr1:33404374..33959337hg38UCSC Ensembl
Outerchr1:33404074..33959637hg38UCSC Ensembl
chr1:33869825..34425088hg19UCSC Ensembl
Innerchr1:33869975..34424938hg19UCSC Ensembl
Outerchr1:33869675..34425238hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38555264
hg19555264
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585686
Supporting Variants
SamplesNA11893
Known GenesCSMD2, HMGB4, LOC402779, ZSCAN20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896542
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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