A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605823



Internal ID6646067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94980574..94982667hg38UCSC Ensembl
Innerchr5:94980610..94982632hg38UCSC Ensembl
Outerchr5:94980539..94982703hg38UCSC Ensembl
chr5:94316278..94318371hg19UCSC Ensembl
Innerchr5:94316314..94318336hg19UCSC Ensembl
Outerchr5:94316243..94318407hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11981568
SamplesHG03237
Known GenesMCTP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605823
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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