A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588063



Internal ID6628363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180255232..180264246hg38UCSC Ensembl
Innerchr1:180255232..180264246hg38UCSC Ensembl
Outerchr1:180255165..180264306hg38UCSC Ensembl
chr1:180224367..180233381hg19UCSC Ensembl
Innerchr1:180224367..180233381hg19UCSC Ensembl
Outerchr1:180224300..180233441hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg389015
hg199015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10200146
SamplesNA19056
Known GenesLHX4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588063
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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