A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145556



Internal ID147372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151617849..151618560hg38UCSC Ensembl
Innerchr1:151617857..151618553hg38UCSC Ensembl
Outerchr1:151617842..151618568hg38UCSC Ensembl
chr1:151590325..151591036hg19UCSC Ensembl
Innerchr1:151590333..151591029hg19UCSC Ensembl
Outerchr1:151590318..151591044hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587532
Supporting Variants
SamplesHG01863
Known GenesSNX27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145556
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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