A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605825



Internal ID6646069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94996880..94998299hg38UCSC Ensembl
Innerchr5:94996880..94998299hg38UCSC Ensembl
Outerchr5:94996687..94998496hg38UCSC Ensembl
chr5:94332584..94334003hg19UCSC Ensembl
Innerchr5:94332584..94334003hg19UCSC Ensembl
Outerchr5:94332391..94334200hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381420
hg191420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11981571, essv11981570
SamplesHG00328, HG03559
Known GenesMCTP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605825
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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