A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10181853



Internal ID2583625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167741295..167746445hg38UCSC Ensembl
Innerchr1:167741311..167746430hg38UCSC Ensembl
Outerchr1:167741280..167746461hg38UCSC Ensembl
chr1:167710532..167715682hg19UCSC Ensembl
Innerchr1:167710548..167715667hg19UCSC Ensembl
Outerchr1:167710517..167715698hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385151
hg195151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587853
Supporting Variants
SamplesHG02285
Known GenesMPZL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10181853
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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