A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587853



Internal ID6975276
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10181853, essv10181851, essv10181854, essv10181850, essv10181848, essv10181849, essv10181852, essv10181847
SamplesHG00315, HG00181, HG02285, HG01177, HG01058, NA20533, HG00357, HG01302
Known GenesMPZL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587853
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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