A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11883964



Internal ID1885780
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604880
Supporting Variants
SamplesHG01849
Known GenesGHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11883964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer