A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604767



Internal ID6991795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38265278..38272927hg38UCSC Ensembl
Innerchr5:38265278..38272927hg38UCSC Ensembl
Outerchr5:38265221..38273089hg38UCSC Ensembl
chr5:38265380..38273029hg19UCSC Ensembl
Innerchr5:38265380..38273029hg19UCSC Ensembl
Outerchr5:38265323..38273191hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg387650
hg197650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871734
SamplesHG02017
Known GenesEGFLAM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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