A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14878178



Internal ID1810082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101241784..101244077hg38UCSC Ensembl
Innerchr13:101241784..101244077hg38UCSC Ensembl
Outerchr13:101241335..101244623hg38UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg382294
hg19n/a
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633358
Supporting Variants
SamplesHG01684
Known GenesNALCN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14878178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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