A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624775



Internal ID7011625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122576496..122579687hg38UCSC Ensembl
Innerchr10:122576551..122579633hg38UCSC Ensembl
Outerchr10:122576442..122579742hg38UCSC Ensembl
chr10:124336012..124339203hg19UCSC Ensembl
Innerchr10:124336067..124339149hg19UCSC Ensembl
Outerchr10:124335958..124339258hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383192
hg193192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13955192, essv13955190, essv13955187, essv13955188, essv13955186, essv13955189, essv13955191
SamplesHG03965, HG04144, HG03830, HG03986, NA20901, HG04171, HG03955
Known GenesDMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624775
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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