A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607102



Internal ID6647344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148026584..148359140hg38UCSC Ensembl
Innerchr5:148026584..148359140hg38UCSC Ensembl
Outerchr5:148026084..148359640hg38UCSC Ensembl
chr5:147406147..147738703hg19UCSC Ensembl
Innerchr5:147406147..147738703hg19UCSC Ensembl
Outerchr5:147405647..147739203hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38332557
hg19332557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092636
SamplesHG02032
Known GenesLOC102546294, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607102
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