A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586130



Internal ID6626443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56743073..56744718hg38UCSC Ensembl
Innerchr1:56743073..56744718hg38UCSC Ensembl
Outerchr1:56742756..56745061hg38UCSC Ensembl
chr1:57208746..57210391hg19UCSC Ensembl
Innerchr1:57208746..57210391hg19UCSC Ensembl
Outerchr1:57208429..57210734hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9937697, essv9937698, essv9937696, essv9937705, essv9937703, essv9937704, essv9937701, essv9937699, essv9937702, essv9937700, essv9937706
SamplesHG00654, NA18539, HG00464, HG00560, NA18538, HG00428, HG00584, NA18543, HG00595, HG00472, NA19063
Known GenesC1orf168
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586130
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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