A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604715



Internal ID6644965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36267281..36270939hg38UCSC Ensembl
Innerchr5:36267331..36270889hg38UCSC Ensembl
Outerchr5:36267231..36270989hg38UCSC Ensembl
chr5:36267383..36271041hg19UCSC Ensembl
Innerchr5:36267433..36270991hg19UCSC Ensembl
Outerchr5:36267333..36271091hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg383659
hg193659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11868681
SamplesHG03169
Known GenesRANBP3L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604715
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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