A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604838



Internal ID6991866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41226674..41243835hg38UCSC Ensembl
Innerchr5:41226685..41243825hg38UCSC Ensembl
Outerchr5:41226664..41243846hg38UCSC Ensembl
chr5:41226776..41243937hg19UCSC Ensembl
Innerchr5:41226787..41243927hg19UCSC Ensembl
Outerchr5:41226766..41243948hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817162
hg1917162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879612, essv11879615, essv11879618, essv11879610, essv11879617, essv11879613, essv11879608, essv11879614, essv11879616, essv11879611, essv11879609
SamplesNA18967, HG02087, HG00634, NA18618, HG02130, HG00543, HG02152, HG00844, NA18555, NA19090, NA19004
Known GenesC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604838
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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