A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11638236



Internal ID1640052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144100754..144117717hg38UCSC Ensembl
chr4:145021907..145038870hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3816964
hg1916964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602537
Supporting Variants
SamplesNA20867
Known GenesGYPA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11638236
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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