A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587909



Internal ID6628209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171004739..171005958hg38UCSC Ensembl
Innerchr1:171004743..171005954hg38UCSC Ensembl
Outerchr1:171004735..171005962hg38UCSC Ensembl
chr1:170973880..170975099hg19UCSC Ensembl
Innerchr1:170973884..170975095hg19UCSC Ensembl
Outerchr1:170973876..170975103hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10187995, essv10187994, essv10187996
SamplesHG03064, HG02811, HG03028
Known GenesMROH9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587909
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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