A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929157



Internal ID6711224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50889283..50908207hg38UCSC Ensembl
Innerchr1:50889783..50907707hg38UCSC Ensembl
Outerchr1:50888283..50909207hg38UCSC Ensembl
chr1:51354955..51373879hg19UCSC Ensembl
Innerchr1:51355455..51373379hg19UCSC Ensembl
Outerchr1:51353955..51374879hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3818925
hg1918925
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586025
Supporting Variants
SamplesNA20846
Known GenesFAF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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