A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12042819



Internal ID2601859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122006704..122007787hg38UCSC Ensembl
Innerchr5:122006704..122007787hg38UCSC Ensembl
Outerchr5:122006398..122008168hg38UCSC Ensembl
chr5:121342399..121343482hg19UCSC Ensembl
Innerchr5:121342399..121343482hg19UCSC Ensembl
Outerchr5:121342093..121343863hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606583
Supporting Variants
SamplesHG02307
Known GenesSRFBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12042819
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