A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11909849



Internal ID1264314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56189792..56197637hg38UCSC Ensembl
Innerchr5:56189809..56197620hg38UCSC Ensembl
Outerchr5:56189775..56197654hg38UCSC Ensembl
chr5:55485619..55493464hg19UCSC Ensembl
Innerchr5:55485636..55493447hg19UCSC Ensembl
Outerchr5:55485602..55493481hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387846
hg197846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605115
Supporting Variants
SamplesHG01111
Known GenesANKRD55
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11909849
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