A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871305



Internal ID884450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37851138..37851629hg38UCSC Ensembl
Innerchr5:37851162..37851605hg38UCSC Ensembl
Outerchr5:37851114..37851653hg38UCSC Ensembl
chr5:37851240..37851731hg19UCSC Ensembl
Innerchr5:37851264..37851707hg19UCSC Ensembl
Outerchr5:37851216..37851755hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604752
Supporting Variants
SamplesHG00476
Known GenesGDNF-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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