A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599932



Internal ID6986977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23840300..23840996hg38UCSC Ensembl
Innerchr4:23840350..23840946hg38UCSC Ensembl
Outerchr4:23840250..23841046hg38UCSC Ensembl
chr4:23841923..23842619hg19UCSC Ensembl
Innerchr4:23841973..23842569hg19UCSC Ensembl
Outerchr4:23841873..23842669hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11370546
SamplesHG02127
Known GenesPPARGC1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599932
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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