A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054565



Internal ID6056381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39530314..39535353hg38UCSC Ensembl
Innerchr19:39530323..39535344hg38UCSC Ensembl
Outerchr19:39530305..39535362hg38UCSC Ensembl
chr19:40020954..40025993hg19UCSC Ensembl
Innerchr19:40020963..40025984hg19UCSC Ensembl
Outerchr19:40020945..40026002hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385040
hg195040
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644331
Supporting Variants
SamplesHG02122
Known GenesEID2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054565
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