A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589309



Internal ID6976637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240393903..240394872hg38UCSC Ensembl
Innerchr1:240393920..240394855hg38UCSC Ensembl
Outerchr1:240393886..240394889hg38UCSC Ensembl
chr1:240557203..240558172hg19UCSC Ensembl
Innerchr1:240557220..240558155hg19UCSC Ensembl
Outerchr1:240557186..240558189hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38970
hg19970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10349388, essv10349385, essv10349389, essv10349393, essv10349390, essv10349384, essv10349386, essv10349391, essv10349387, essv10349392
SamplesHG02360, HG01802, NA18627, NA18563, HG00689, NA18538, NA18564, HG01800, NA18643, HG02676
Known GenesFMN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589309
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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