A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587511



Internal ID6974934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150753200..150754922hg38UCSC Ensembl
Innerchr1:150753250..150754872hg38UCSC Ensembl
Outerchr1:150753148..150754974hg38UCSC Ensembl
chr1:150725676..150727398hg19UCSC Ensembl
Innerchr1:150725726..150727348hg19UCSC Ensembl
Outerchr1:150725624..150727450hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145184
SamplesHG02232
Known GenesCTSS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587511
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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