A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11538632



Internal ID1540448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94311488..94322116hg38UCSC Ensembl
Innerchr4:94311638..94321966hg38UCSC Ensembl
Outerchr4:94311338..94322266hg38UCSC Ensembl
chr4:95232639..95243267hg19UCSC Ensembl
Innerchr4:95232789..95243117hg19UCSC Ensembl
Outerchr4:95232489..95243417hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3810629
hg1910629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601448
Supporting Variants
SamplesNA19655
Known GenesHPGDS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11538632
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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