A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6375797



Internal ID9852386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124250801..124252348hg38UCSC Ensembl
Outerchr3:124250764..124252398hg38UCSC Ensembl
Innerchr3:123969648..123971195hg19UCSC Ensembl
Outerchr3:123969611..123971245hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381635
hg191635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2660299
Supporting Variants
SamplesNA20519
Known GenesKALRN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6375797
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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