A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615288



Internal ID7002177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142717153..142754210hg38UCSC Ensembl
Innerchr7:142717153..142754210hg38UCSC Ensembl
Outerchr7:142716653..142754710hg38UCSC Ensembl
chr7:142424980..142462061hg19UCSC Ensembl
Innerchr7:142424980..142462061hg19UCSC Ensembl
Outerchr7:142424480..142462561hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3837058
hg1937082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12989508, essv12989503, essv12989511, essv12989505, essv12989507, essv12989502, essv12989510, essv12989501, essv12989504, essv12989506, essv12989509
SamplesNA19350, HG02870, HG00452, NA12812, NA07347, HG01950, HG01615, NA11893, HG02408, NA12154, NA20509
Known GenesPRSS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615288
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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