A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604880



Internal ID6645130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42671767..42676084hg38UCSC Ensembl
Innerchr5:42671817..42676034hg38UCSC Ensembl
Outerchr5:42671664..42676187hg38UCSC Ensembl
chr5:42671869..42676186hg19UCSC Ensembl
Innerchr5:42671919..42676136hg19UCSC Ensembl
Outerchr5:42671766..42676289hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg384318
hg194318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11883964
SamplesHG01849
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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