A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10332337



Internal ID2720729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235346457..235352239hg38UCSC Ensembl
Innerchr1:235346457..235352239hg38UCSC Ensembl
Outerchr1:235346165..235352716hg38UCSC Ensembl
chr1:235509772..235515554hg19UCSC Ensembl
Innerchr1:235509772..235515554hg19UCSC Ensembl
Outerchr1:235509480..235516031hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385783
hg195783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589192
Supporting Variants
SamplesHG02396
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10332337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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