A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9901842



Internal ID2359094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35627175..35641806hg38UCSC Ensembl
Innerchr1:35627175..35641806hg38UCSC Ensembl
Outerchr1:35626675..35642306hg38UCSC Ensembl
chr1:36092776..36107407hg19UCSC Ensembl
Innerchr1:36092776..36107407hg19UCSC Ensembl
Outerchr1:36092276..36107907hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3814632
hg1914632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585723
Supporting Variants
SamplesHG02088
Known GenesPSMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9901842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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