A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588788



Internal ID6629079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214534472..214535552hg38UCSC Ensembl
Innerchr1:214534551..214535474hg38UCSC Ensembl
Outerchr1:214534394..214535631hg38UCSC Ensembl
chr1:214707815..214708895hg19UCSC Ensembl
Innerchr1:214707894..214708817hg19UCSC Ensembl
Outerchr1:214707737..214708974hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291360
SamplesHG01082
Known GenesPTPN14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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