A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125432



Internal ID3534086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124638147..124642700hg38UCSC Ensembl
Innerchr3:124638197..124642650hg38UCSC Ensembl
Outerchr3:124638057..124642790hg38UCSC Ensembl
chr3:124356994..124361547hg19UCSC Ensembl
Innerchr3:124357044..124361497hg19UCSC Ensembl
Outerchr3:124356904..124361637hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597641
Supporting Variants
SamplesHG03124
Known GenesKALRN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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