A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696044



Internal ID14709324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74495586..74496784hg38UCSC Ensembl
Innerchr7:74495784..74496586hg38UCSC Ensembl
Outerchr7:74494586..74497784hg38UCSC Ensembl
chr7:73909916..73911114hg19UCSC Ensembl
Innerchr7:73910114..73910916hg19UCSC Ensembl
Outerchr7:73908916..73912114hg19UCSC Ensembl
chr7:73547852..73549050hg18UCSC Ensembl
Innerchr7:73548852..73548050hg18UCSC Ensembl
Outerchr7:73546852..73550050hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363878
Supporting Variants
SamplesNA19239
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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