A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10332899



Internal ID3960655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235388176..235397239hg38UCSC Ensembl
Innerchr1:235388676..235396739hg38UCSC Ensembl
Outerchr1:235387176..235398239hg38UCSC Ensembl
chr1:235551491..235560554hg19UCSC Ensembl
Innerchr1:235551991..235560054hg19UCSC Ensembl
Outerchr1:235550491..235561554hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg389064
hg199064
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589195
Supporting Variants
SamplesHG03611
Known GenesTBCE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10332899
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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