A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12456501



Internal ID4973836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87716543..87719632hg38UCSC Ensembl
Innerchr6:87716544..87719632hg38UCSC Ensembl
Outerchr6:87716543..87719633hg38UCSC Ensembl
chr6:88426261..88429350hg19UCSC Ensembl
Innerchr6:88426262..88429350hg19UCSC Ensembl
Outerchr6:88426261..88429351hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg383090
hg193090
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609868
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12456501
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