A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10208519



Internal ID210335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182807774..182813042hg38UCSC Ensembl
Innerchr1:182807807..182813010hg38UCSC Ensembl
Outerchr1:182807742..182813075hg38UCSC Ensembl
chr1:182776909..182782177hg19UCSC Ensembl
Innerchr1:182776942..182782145hg19UCSC Ensembl
Outerchr1:182776877..182782210hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385269
hg195269
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588106
Supporting Variants
SamplesNA20813
Known GenesNPL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10208519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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