A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599871



Internal ID6986916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21464592..21533589hg38UCSC Ensembl
Innerchr4:21464609..21533572hg38UCSC Ensembl
Outerchr4:21464575..21533606hg38UCSC Ensembl
chr4:21466215..21535212hg19UCSC Ensembl
Innerchr4:21466232..21535195hg19UCSC Ensembl
Outerchr4:21466198..21535229hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3868998
hg1968998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11368419
SamplesNA21124
Known GenesKCNIP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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