A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601310



Internal ID6641567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88888743..88893555hg38UCSC Ensembl
Innerchr4:88888743..88893555hg38UCSC Ensembl
Outerchr4:88888541..88893843hg38UCSC Ensembl
chr4:89809894..89814706hg19UCSC Ensembl
Innerchr4:89809894..89814706hg19UCSC Ensembl
Outerchr4:89809692..89814994hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384813
hg194813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11528442, essv11528443
SamplesHG00607, NA18599
Known GenesFAM13A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601310
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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