A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586060



Internal ID6626374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52955100..52958228hg38UCSC Ensembl
Innerchr1:52955135..52958193hg38UCSC Ensembl
Outerchr1:52955065..52958263hg38UCSC Ensembl
chr1:53420772..53423900hg19UCSC Ensembl
Innerchr1:53420807..53423865hg19UCSC Ensembl
Outerchr1:53420737..53423935hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383129
hg193129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929511
SamplesHG01597
Known GenesSCP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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