A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12104155



Internal ID4351523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153791066..153792295hg38UCSC Ensembl
Innerchr5:153791270..153792245hg38UCSC Ensembl
Outerchr5:153791016..153792345hg38UCSC Ensembl
chr5:153170626..153171855hg19UCSC Ensembl
Innerchr5:153170830..153171805hg19UCSC Ensembl
Outerchr5:153170576..153171905hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381230
hg191230
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607233
Supporting Variants
SamplesHG03888
Known GenesGRIA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12104155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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