A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937642



Internal ID14440023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128051394..128051410hg38UCSC Ensembl
Innerchr7:128051389..128051412hg38UCSC Ensembl
Outerchr7:128051373..128051428hg38UCSC Ensembl
chr7:127691446..127691462hg19UCSC Ensembl
Innerchr7:127691441..127691464hg19UCSC Ensembl
Outerchr7:127691425..127691480hg19UCSC Ensembl
chr7:127478682..127478698hg18UCSC Ensembl
Innerchr7:127478700..127478677hg18UCSC Ensembl
Outerchr7:127478661..127478716hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342788
Supporting Variants
SamplesNA18916
Known GenesSND1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937642
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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