A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597700



Internal ID6984838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127809095..127810388hg38UCSC Ensembl
Innerchr3:127809246..127810240hg38UCSC Ensembl
Outerchr3:127808891..127810592hg38UCSC Ensembl
chr3:127527938..127529231hg19UCSC Ensembl
Innerchr3:127528089..127529083hg19UCSC Ensembl
Outerchr3:127527734..127529435hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11135155, essv11135159, essv11135157, essv11135156, essv11135158
SamplesHG00244, HG01789, HG01879, NA12718, NA12890
Known GenesMGLL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597700
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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