A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587970



Internal ID6975394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174835245..174850119hg38UCSC Ensembl
chr1:174804383..174819257hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3814875
hg1914875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv61e214
Supporting Variantsessv10189871, essv10189872
SamplesHG00589, HG02152
Known GenesRABGAP1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587970
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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