A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11427933



Internal ID3565028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47989677..47990053hg38UCSC Ensembl
Innerchr4:47989684..47990047hg38UCSC Ensembl
Outerchr4:47989671..47990060hg38UCSC Ensembl
chr4:47991694..47992070hg19UCSC Ensembl
Innerchr4:47991701..47992064hg19UCSC Ensembl
Outerchr4:47991688..47992077hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600457
Supporting Variants
SamplesHG03157
Known GenesCNGA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11427933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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