A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604878



Internal ID6645128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42654936..42656577hg38UCSC Ensembl
Innerchr5:42654936..42656577hg38UCSC Ensembl
Outerchr5:42654739..42656776hg38UCSC Ensembl
chr5:42655038..42656679hg19UCSC Ensembl
Innerchr5:42655038..42656679hg19UCSC Ensembl
Outerchr5:42654841..42656878hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381642
hg191642
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11883730
SamplesHG01917
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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