A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15749035



Internal ID3434080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78044156..78046456hg38UCSC Ensembl
Innerchr17:78044164..78046449hg38UCSC Ensembl
Outerchr17:78044149..78046464hg38UCSC Ensembl
chr17:76040237..76042537hg19UCSC Ensembl
Innerchr17:76040245..76042530hg19UCSC Ensembl
Outerchr17:76040230..76042545hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641323
Supporting Variants
SamplesHG03066
Known GenesTNRC6C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15749035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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