A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188533



Internal ID5053710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173554638..173555792hg38UCSC Ensembl
Innerchr1:173554653..173555778hg38UCSC Ensembl
Outerchr1:173554624..173555807hg38UCSC Ensembl
chr1:173523777..173524931hg19UCSC Ensembl
Innerchr1:173523792..173524917hg19UCSC Ensembl
Outerchr1:173523763..173524946hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587945
Supporting Variants
SamplesNA18533
Known GenesSLC9C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188533
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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