A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608811



Internal ID6995735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42990772..42997539hg38UCSC Ensembl
Innerchr6:42991272..42997039hg38UCSC Ensembl
Outerchr6:42989772..42998539hg38UCSC Ensembl
chr6:42958510..42965277hg19UCSC Ensembl
Innerchr6:42959010..42964777hg19UCSC Ensembl
Outerchr6:42957510..42966277hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg386768
hg196768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12329483
SamplesNA20532
Known GenesPPP2R5D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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