A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12099830



Internal ID2101646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151420015..151420720hg38UCSC Ensembl
Innerchr5:151420065..151420670hg38UCSC Ensembl
Outerchr5:151419905..151420830hg38UCSC Ensembl
chr5:150799576..150800281hg19UCSC Ensembl
Innerchr5:150799626..150800231hg19UCSC Ensembl
Outerchr5:150799466..150800391hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607178
Supporting Variants
SamplesHG02050
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12099830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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