A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145235



Internal ID147051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150935078..150939599hg38UCSC Ensembl
Innerchr1:150935078..150939599hg38UCSC Ensembl
Outerchr1:150934825..150939852hg38UCSC Ensembl
chr1:150907554..150912075hg19UCSC Ensembl
Innerchr1:150907554..150912075hg19UCSC Ensembl
Outerchr1:150907301..150912328hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587518
Supporting Variants
SamplesNA19681
Known GenesSETDB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145235
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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